Each person normally has 23 pairs of chromosomes, or 46 in all. We inherit one chromosome per pair from our mother and one from our father.
|
|
- Eileen Avice Byrd
- 7 years ago
- Views:
Transcription
1 AP Psychology 2.2 Behavioral Genetics Article Chromosomal Abnormalities About 1 in 150 babies is born with a chromosomal abnormality (1, 2). These are caused by errors in the number or structure of chromosomes. There are many different chromosomal abnormalities. Many children with a chromosomal abnormality have mental and/or physical birth defects. Understanding what chromosomes are may make it easier to understand the wide range of problems chromosomal abnormalities can cause. What are chromosomes? Chromosomes are tiny string-like structures in cells of the body that contain the genes. Humans have about 20,000 to 25,000 genes that determine traits like eye and hair color. They also direct the growth and development of every part of the body (3). Each person normally has 23 pairs of chromosomes, or 46 in all. We inherit one chromosome per pair from our mother and one from our father. Sometimes, however, a baby can be born with too many or too few chromosomes, or with one or more chromosomes that are missing a piece or are rearranged. These errors in the number or structure of chromosomes can cause a wide variety of birth defects ranging from mild to severe. Some chromosomal abnormalities result in miscarriage or stillbirth. What causes chromosomal abnormalities? Chromosomal abnormalities usually result from an error that occurred when an egg or sperm cell was developing. It is not known why these errors occur. As far as we know, nothing that a parent does or doesn't do before or during pregnancy can cause a chromosomal abnormality in his or her child. Sperm and egg cells are different from other cells in the body. These cells have only 23 unpaired chromosomes. When an egg and sperm cell join together they form a fertilized egg with 46 chromosomes. But sometimes something goes wrong before fertilization. An egg or sperm cell may divide incorrectly, resulting in an egg or sperm cell with too many or too few chromosomes. When this cell with the wrong number of chromosomes joins with a normal egg or sperm cell, the resulting embryo has a chromosomal abnormality. A common type of chromosomal abnormality is called a trisomy. This means that an individual has three copies, instead of two, of a specific chromosome. Down syndrome is an example of a trisomy. Individuals with Down syndrome generally have three copies of chromosome 21. Children with Down syndrome have varying degrees of mental retardation, characteristic facial features and, often, heart defects and other problems.the risk of Down syndrome and other trisomies increases with maternal age.
2 In most cases, an embryo with the wrong number of chromosomes does not survive. In such cases, the pregnant woman has a miscarriage. This often happens very early in pregnancy, before a woman may realize she's pregnant. Up to 75 percent of first trimester miscarriages are caused by chromosomal abnormalities in the embryo (4). Other errors also can occur, usually before fertilization. These errors can alter the structure of one or more chromosomes. Individuals with structural chromosomal abnormalities usually have the normal number of chromosomes. However, small pieces of a chromosome (or chromosomes) may be deleted, duplicated, inverted, misplaced or exchanged with part of another chromosome. These structural rearrangements sometimes have no effect, if all of the chromosome is there but just rearranged, or it may result in pregnancy loss or birth defects. Errors in cell division also can occur soon after fertilization. This can result in mosaicism, a condition in which an individual has cells with different genetic makeups. For example, individuals with the mosaic form of Turner syndrome are missing an X chromosome in some, but not all, of their cells. Some individuals with chromosomal mosaicism may be mildly affected, but the severity of the condition depends largely on the percentage of abnormal cells. How are chromosomal abnormalities diagnosed? Chromosomal abnormalities can be diagnosed after birth using a blood test, or before birth using prenatal tests (amniocentesis or chorionic villus sampling). Cells obtained from these tests are grown in the laboratory, and then their chromosomes are examined under a microscope. The lab makes a picture (karyotype) of all the person's chromosomes, arranged in order from largest to smallest. The karyotype shows the number, size and shape of the chromosomes and helps experts identify any abnormalities. What are the most common chromosomal abnormalities? Down syndrome is one of the most common chromosomal abnormalities, affecting about 1 in 800 babies (4, 5). The risk of Down syndrome and other trisomies increases with the mother's age. The risk of having a live-born baby with Down syndrome (4) is about: 1 in 1,250 for a woman at age 25 1 in 1,000 at age 30 1 in 400 at age 35 1 in 100 at age 40 The outlook for children with Down syndrome is far brighter than it once was. Most have mental retardation in the mild to moderate range. With early intervention and special education, many learn to read and write and participate in diverse childhood activities. (For more information, see the fact sheet on Down syndrome.) Babies also can be born with an extra copy of chromosome 13 or 18. These trisomies are usually more severe than Down syndrome, but fortunately less common. About 1 in 10,000 babies is born with trisomy 13 (also called Patau syndrome), and about 1 in 6,000 with trisomy 18 (also called Edwards syndrome) (3, 6). Babies with trisomies 13 or 18 generally have severe mental retardation and many physical birth defects. Most affected babies die before their first birthday.
3 The X and Y chromosomes are referred to as sex chromosomes. About 1 in 500 babies has missing or extra sex chromosomes (2). Generally, females have two X chromosomes, and males have one X chromosome and one Y chromosome. Sex chromosome abnormalities may cause infertility, growth abnormalities, and in some cases, behavioral and learning problems. However, most affected individuals live fairly normal lives. Turner syndrome is a sex chromosome abnormality that affects about 1 in 2,500 girls (3, 4). Girls with Turner syndrome are missing all or part of one X chromosome. They usually are infertile and do not undergo normal pubertal changes unless they are treated with sex hormones. Affected girls are short, though treatment with growth hormones can help increase height. Some have other health problems, including heart and kidney defects. Girls with Turner syndrome generally have normal intelligence, though some have difficulties with mathematics and spatial concepts (7). About 1 in 1,000 females has an extra X chromosome, referred to as triple X (3). Affected girls tend to be tall. They usually have no physical birth defects, undergo normal puberty and are fertile. Affected girls usually have normal intelligence, though many have learning disabilities. Because these girls are healthy and have a normal appearance, their parents often don't know they have a chromosomal abnormality. Some parents may learn that their daughter has this abnormality if they have prenatal testing (with amniocentesis or chorionic villus sampling). Klinefelter syndrome is a sex-chromosome abnormality that affects about 1 in 500 to 1,000 boys (3, 4) Boys with Klinefelter syndrome have two, or occasionally more, X chromosomes along with their Y chromosome (males normally have one X and one Y chromosome). Affected boys usually have normal intelligence, though many have learning disabilities. As adults, they produce lower-than-normal amounts of the male hormone testosterone (and often are treated with this hormone) and are infertile. About 1 in 1,000 males is born with one or more extra Y chromosomes (3). Affected males are sometimes taller than average, have normal sexual development and are fertile. Most have normal intelligence, though some have learning disabilities, and behavioral and speech/language problems. As with triple X females, many affected males and their families don't know they have a chromosomal abnormality unless it is diagnosed with prenatal testing. Are there other, less common, chromosomal abnormalities? New techniques for analyzing chromosomes have made it possible to identify tiny chromosomal abnormalities that may not be visible even under a high-powered microscope. As a result, more parents are learning that their child has a chromosomal abnormality. Some of these uncommon chromosomal abnormalities include: Deletion: A small section is missing. Microdeletion: A minute amount of material (sometimes only a single gene) is missing. Translocation: A section of a chromosome is attached to another chromosome. Inversion: A section of chromosome is snipped out and reinserted upside down. Duplication: A section of a chromosome is duplicated, so there is extra genetic material. Ring chromosome: Material is deleted at both ends of a chromosome, and the new ends join together to form a ring. Some of these abnormalities are so rare that only one or a few children are known to be affected. In such cases, it may be impossible for a doctor to predict a child's long-term health and development.
4 Some abnormalities (such as some translocations and inversions) may not affect a person's health if no genetic material is missing or duplicated. Some rare disorders can be caused by small chromosomal deletions. Some examples are: Prader-Willi syndrome (deletion on chromosome 15): Affected children usually have mental retardation or learning disabilities, behavioral problems and short stature. They also may develop extreme obesity. Cri-du-chat (cat cry) syndrome (deletion on chromosome 5): Affected children have a cat-like highpitched cry during infancy, mental retardation and physical abnormalities. Wolf-Hirschhorn syndrome (deletion on chromosome 4): This disorder is characterized by severe mental retardation, heart defects, poor muscle tone, seizures, high blood pressure and other problems. 22q11 deletion syndrome (deletion on chromosome 22): Deletions in a specific region of chromosome 22 cause a variety of problems that can include heart defects, cleft lip/palate, immune system abnormalities, characteristic facial features and learning disabilities. Certain combinations of these features are sometimes called DiGeorge or velocardiofacial syndrome. Individuals with this disorder have a 50 percent chance of passing the chromosomal abnormality on to their offspring with each pregnancy. With the exception of individuals with 22q11 deletion syndrome, individuals with these disorders generally do not reproduce. Are all children with the same chromosomal abnormality alike? No. Each child with a chromosomal abnormality should be evaluated as an individual. Even people with apparently identical chromosomal abnormalities can differ substantially from each other. How a person is affected depends greatly, but not wholly, on the exact genetic material involved. Each chromosome contains hundreds to thousands of genes, and each gene influences different characteristics or body functions. New techniques of analyzing chromosomes sometimes can pinpoint exactly where missing or extra genetic material comes from. If doctors know what genes are contained in that section and their function, they sometimes can give parents a better prediction of a child's future development. Will the brothers and sisters of a child with a chromosomal abnormality have the same problem? Parents who have had a baby with a chromosomal abnormality should consult a genetic counselor. These health professionals help families understand what is known about the causes of a birth defect, and the chances that the birth defect will recur in another pregnancy. Fortunately, in most cases, parents of a baby with a chromosomal abnormality learn that the risk is low. For example, parents of a baby with Down syndrome usually have about a 1 percent risk of having another affected baby, if the mother is under age 35 (1, 2). Mothers over age 35 are believed to have a risk similar to other women their age. However, there are exceptions. For example, a small number of parents of children with Down syndrome or various other chromosomal abnormalities have a chromosomal rearrangement (balanced translocation) that does not affect their own health. However, these rearrangements can be harmful when passed on to their offspring. Sometimes a genetic counselor recommends blood tests to determine whether parents carry such a rearrangement in order to give the parents the most accurate
5 picture of their risk in another pregnancy. Testing also may occasionally show that a parent of a child with 22q11 deletion syndrome has a mild, previously undiagnosed form of the disorder that can be passed along to future offspring.
Trisomy 13 (also called Patau s syndrome or T13)
Screening Programmes Fetal Anomaly Trisomy 13 (also called Patau s syndrome or T13) Information for parents Publication date: April 2012 Review date: April 2013 Version 2 117 Information sheet to help
More informationCHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA
CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA Cytogenetics is the study of chromosomes and their structure, inheritance, and abnormalities. Chromosome abnormalities occur in approximately:
More informationyour questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing.
your questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing. Accurate answers about your baby s health simply, safely, sooner. What is the verifi Prenatal
More informationNational Down Syndrome Society
National Down Syndrome Society The national advocate for the value, acceptance and inclusion of people with Down syndrome What is Down Syndrome? Down syndrome is the most commonly occurring chromosomal
More informationMitosis, Meiosis and Fertilization 1
Mitosis, Meiosis and Fertilization 1 I. Introduction When you fall and scrape the skin off your hands or knees, how does your body make new skin cells to replace the skin cells that were scraped off? How
More informationGenetic Mutations. Indicator 4.8: Compare the consequences of mutations in body cells with those in gametes.
Genetic Mutations Indicator 4.8: Compare the consequences of mutations in body cells with those in gametes. Agenda Warm UP: What is a mutation? Body cell? Gamete? Notes on Mutations Karyotype Web Activity
More informationFirst Trimester Screening for Down Syndrome
First Trimester Screening for Down Syndrome What is first trimester risk assessment for Down syndrome? First trimester screening for Down syndrome, also known as nuchal translucency screening, is a test
More informationA test your patients can trust.
A test your patients can trust. A simple, safe, and accurate non-invasive prenatal test for early risk assessment of Down syndrome and other conditions. informaseq Prenatal Test Simple, safe, and accurate
More informationGenetics and Pregnancy Loss
Genetics and Pregnancy Loss Dorothy Warburton Genetics and Development (in Pediatrics) Columbia University, New York Estimates of Pregnancy Loss from Conception 1000 fertilized eggs (27% are lost) 728
More informationRobertsonian Translocations
Robertsonian Translocations rarechromo.org Robertsonian translocations A Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together.
More informationBasic Human Genetics: Reproductive Health and Chromosome Abnormalities
Basic Human Genetics: Reproductive Health and Chromosome Abnormalities Professor Hanan Hamamy Department of Genetic Medicine and Development Geneva University Switzerland Training Course in Sexual and
More informationA Guide to Prenatal Genetic Testing
Patient Education Page 29 A Guide to Prenatal Genetic Testing This section describes prenatal tests that give information about your baby s health. It is your choice whether or not to have these tests
More informationBalanced. translocations. rarechromo.org. Support and Information
Support and Information Rare Chromosome Disorder Support Group, G1, The Stables, Station Rd West, Oxted, Surrey. RH8 9EE Tel: +44(0)1883 723356 info@rarechromo.org I www.rarechromo.org Balanced Unique
More informationREI Pearls: Pitfalls of Genetic Testing in Miscarriage
The Skinny: Genetic testing of miscarriage tissue is controversial and some people question if testing is helpful or not. This summary will: 1) outline the arguments for and against genetic testing; 2)
More informationPrenatal Testing Special tests for your baby during pregnancy
English April 2006 [OTH-7750] There are a number of different prenatal (before birth) tests to check the development of your baby. Each test has advantages and disadvantages. This information is for people
More informationPrenatal screening and diagnostic tests
Prenatal screening and diagnostic tests Contents Introduction 3 First trimester routine tests in the mother 3 Testing for health conditions in the baby 4 Why would you have a prenatal test? 6 What are
More informationThe correct answer is c A. Answer a is incorrect. The white-eye gene must be recessive since heterozygous females have red eyes.
1. Why is the white-eye phenotype always observed in males carrying the white-eye allele? a. Because the trait is dominant b. Because the trait is recessive c. Because the allele is located on the X chromosome
More information4.2 Meiosis. Meiosis is a reduction division. Assessment statements. The process of meiosis
4.2 Meiosis Assessment statements State that meiosis is a reduction division of a diploid nucleus to form haploid nuclei. Define homologous chromosomes. Outline the process of meiosis, including pairing
More informationFact Sheet 14 EPIGENETICS
This fact sheet describes epigenetics which refers to factors that can influence the way our genes are expressed in the cells of our body. In summary Epigenetics is a phenomenon that affects the way cells
More informationMarrying a relative. Is there an increased chance that a child will have genetic problems if its parents are related to each other?
Marrying a relative Is there an increased chance that a child will have genetic problems if its parents are related to each other? The simple answer to this question is Yes, there is an increased chance.
More informationFERTILITY AND AGE. Introduction. Fertility in the later 30's and 40's. Am I fertile?
FERTILITY AND AGE Introduction Delaying pregnancy is a common choice for women in today's society. The number of women in their late 30s and 40s attempting pregnancy and having babies has increased in
More informationThe Developing Person Through the Life Span 8e by Kathleen Stassen Berger
The Developing Person Through the Life Span 8e by Kathleen Stassen Berger Chapter 3 Heredity and Environment PowerPoint Slides developed by Martin Wolfger and Michael James Ivy Tech Community College-Bloomington
More informationInfluence of Sex on Genetics. Chapter Six
Influence of Sex on Genetics Chapter Six Humans 23 Autosomes Chromosomal abnormalities very severe Often fatal All have at least one X Deletion of X chromosome is fatal Males = heterogametic sex XY Females
More informationPreimplantation Genetic Diagnosis (PGD) in Western Australia
Preimplantation Genetic Diagnosis (PGD) in Western Australia Human somatic cells have 46 chromosomes each, made up of the 23 chromosomes provided by the egg and the sperm cell from each parent. Each chromosome
More informationPreimplantation Genetic Diagnosis. Evaluation for single gene disorders
Preimplantation Genetic Diagnosis Evaluation for single gene disorders What is Preimplantation Genetic Diagnosis? Preimplantation genetic diagnosis or PGD is a technology that allows genetic testing of
More informationUNIT 13 (OPTION) Genetic Abnormalities
Unit 13 Genetic Abnormailities 1 UNIT 13 (OPTION) Genetic Abnormalities Originally developed by: Hildur Helgedottir RN, MN Revised (2000) by: Marlene Reimer RN, PhD, CCN (C) Associate Professor Faculty
More informationChromosomes, Mapping, and the Meiosis Inheritance Connection
Chromosomes, Mapping, and the Meiosis Inheritance Connection Carl Correns 1900 Chapter 13 First suggests central role for chromosomes Rediscovery of Mendel s work Walter Sutton 1902 Chromosomal theory
More informationUnderstanding Fertility
Understanding Fertility 6 Introduction The word fertile means the ability to become pregnant or to cause pregnancy. Basic knowledge of both the male and female reproductive systems is important for understanding
More informationGenetics for the Novice
Genetics for the Novice by Carol Barbee Wait! Don't leave yet. I know that for many breeders any article with the word genetics in the title causes an immediate negative reaction. Either they quickly turn
More informationObstetrical Ultrasound and Prenatal Diagnostic Center
Obstetrical Ultrasound and Prenatal Diagnostic Center Prenatal Diagnosis: Options and Opportunities Learn about various screening options including Early Risk Assessment (ERA), now available to women of
More informationLEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES. Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD
LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD 2 Outline Genetics 101: Basic Concepts and Myth Busting Inheritance Patterns
More informationChromosomes, Karyotyping, and Abnormalities (Learning Objectives) Learn the components and parts of a metaphase chromosome.
Chromosomes, Karyotyping, and Abnormalities (Learning Objectives) Learn the components and parts of a metaphase chromosome. Define the terms karyotype, autosomal and sex chromosomes. Explain how many of
More informationA trait is a variation of a particular character (e.g. color, height). Traits are passed from parents to offspring through genes.
1 Biology Chapter 10 Study Guide Trait A trait is a variation of a particular character (e.g. color, height). Traits are passed from parents to offspring through genes. Genes Genes are located on chromosomes
More informationIn - Vitro Fertilization Handbook
In - Vitro Fertilization Handbook William F. Ziegler, D.O. Medical Director Scott Kratka, ELD, TS Embryology Laboratory Director Lauren F. Lucas, P.A.-C, M.S. Physician Assistant Frances Cerniak, R.N.
More informationHeredity - Patterns of Inheritance
Heredity - Patterns of Inheritance Genes and Alleles A. Genes 1. A sequence of nucleotides that codes for a special functional product a. Transfer RNA b. Enzyme c. Structural protein d. Pigments 2. Genes
More informationWhat Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives
What Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives What does the career involve? Explore family histories to identify risks Reducing risks
More informationAbout The Causes of Hearing Loss
About 1 in 500 infants is born with or develops hearing loss during early childhood. Hearing loss has many causes: some are genetic (that is, caused by a baby s genes) or non-genetic (such as certain infections
More informationReproductive Technology. Chapter 21
Reproductive Technology Chapter 21 Assisted Reproduction When a couple is sub-fertile or infertile they may need Assisted Reproduction to become pregnant: Replace source of gametes Sperm, oocyte or zygote
More informationPatient information on soft markers
Patient information on soft markers Before you read this section remember the following important points. The vast majority of babies with soft markers are normal. Soft markers are frequently seen in healthy
More informationCarol Ludowese, MS, CGC Certified Genetic Counselor HDSA Center of Excellence at Hennepin County Medical Center Minneapolis, Minnesota
Carol Ludowese, MS, CGC Certified Genetic Counselor HDSA Center of Excellence at Hennepin County Medical Center Minneapolis, Minnesota The information provided by speakers in workshops, forums, sharing/networking
More informationMycophenolate mofetil (CellCept ): risks of miscarriage and birth defects. Patient guide. Key points to remember
Mycophenolate (CellCept ): risks of miscarriage and birth defects Patient guide Key points to remember Mycophenolate (CellCept ) causes birth defects and miscarriages Follow the contraceptive advice given
More informationPRACTICE PROBLEMS - PEDIGREES AND PROBABILITIES
PRACTICE PROBLEMS - PEDIGREES AND PROBABILITIES 1. Margaret has just learned that she has adult polycystic kidney disease. Her mother also has the disease, as did her maternal grandfather and his younger
More informationBio EOC Topics for Cell Reproduction: Bio EOC Questions for Cell Reproduction:
Bio EOC Topics for Cell Reproduction: Asexual vs. sexual reproduction Mitosis steps, diagrams, purpose o Interphase, Prophase, Metaphase, Anaphase, Telophase, Cytokinesis Meiosis steps, diagrams, purpose
More informationChromosomal Abnormalities
Chromosomal Abnormalities George E Tiller, MD, PhD Regional Chief, Dept. Genetics Southern California Permanente Medical Group Los Angeles, CA Objectives of Lecture list several indications for karyotyping
More information12.1 The Role of DNA in Heredity
12.1 The Role of DNA in Heredity Only in the last 50 years have scientists understood the role of DNA in heredity. That understanding began with the discovery of DNA s structure. In 1952, Rosalind Franklin
More informationCHROMOSOMES AND INHERITANCE
SECTION 12-1 REVIEW CHROMOSOMES AND INHERITANCE VOCABULARY REVIEW Distinguish between the terms in each of the following pairs of terms. 1. sex chromosome, autosome 2. germ-cell mutation, somatic-cell
More informationCarrier detection tests and prenatal diagnosis
Carrier detection tests and prenatal diagnosis There are several types of muscular dystrophy and about 50 neuromuscular conditions, all of which fall under the umbrella of the Muscular Dystrophy Campaign.
More informationConsent to Perform Preimplantation Genetic Screening (PGS) using. Comparative Genomic Hybridization (acgh) or Next Generation Sequencing (NGS)
Consent to Perform Preimplantation Genetic Screening (PGS) using Array Comparative Genomic Hybridization (acgh ) or Next Generation Sequencing (NGS) Purpose The purpose of Preimplantation Genetic Screening
More informationImportant facts to remember
Important facts to remember If you re pregnant or trying to get pregnant, or if you know someone who is, there are several important points to remember: See a healthcare professional regularly. Get plenty
More informationPatient Information. for Childhood
Patient Information Genetic Testing for Childhood Hearing Loss Introduction This document describes the most common genetic cause of childhood hearing loss and explains the role of genetic testing. Childhood
More informationBreast cancer and genetics
Breast cancer and genetics Cancer and genes Our bodies are made up of millions of cells. Each cell contains a complete set of genes. We have thousands of genes. We each inherit two copies of most genes,
More informationX Linked Inheritance
X Linked Inheritance Information for Patients and Families 2 X linked Inheritance The following will give you information about what X linked inheritance means and how X linked conditions are inherited.
More informationPreimplantation genetic diagnosis new method of screening of 24 chromosomes with the Array CGH method...2
August 2012 content 8 Preimplantation genetic diagnosis new method of screening of 24 chromosomes with the Array CGH method...2 Maintaining fertility new opportunities in GENNET...3 Hysteroscopy without
More information*Please consult the online schedule for this course for the definitive date and time for this lecture.
CHROMOSOMES AND DISEASE Date: September 29, 2005 * Time: 8:00 am- 8:50 am * Room: G-202 Biomolecular Building Lecturer: Jim Evans 4200A Biomolecular Building jpevans@med.unc.edu Office Hours: by appointment
More informationHuman Blood Types: Codominance and Multiple Alleles. Codominance: both alleles in the heterozygous genotype express themselves fully
Human Blood Types: Codominance and Multiple Alleles Codominance: both alleles in the heterozygous genotype express themselves fully Multiple alleles: three or more alleles for a trait are found in the
More informationThis fact sheet describes how genes affect our health when they follow a well understood pattern of genetic inheritance known as autosomal recessive.
11111 This fact sheet describes how genes affect our health when they follow a well understood pattern of genetic inheritance known as autosomal recessive. In summary Genes contain the instructions for
More informationBaby Steps To A Healthy Pregnancy
Preconception Middlesex-London Health Unit 50 King Street, London, ON N6A 5L7 519-663-5317 Published 2015. Copyright of the Middlesex London Health Unit. All rights reserved. Baby Steps To A Healthy Pregnancy
More informationGenetic Disorder Brochure Project
Genetic Disorder Brochure Project (modified from a project found on the Robbinsdale School District website) Overview Create a tri-fold brochure for a doctor s office waiting room. The brochure should
More informationOrganic Acid Disorders
Genetic Fact Sheets for Parents Organic Acid Disorders Screening, Technology, and Research in Genetics is a multi-state project to improve information about the financial, ethical, legal, and social issues
More informationFAMILY PLANNING AND PREGNANCY
FAMILY PLANNING AND PREGNANCY Decisions about family planning can be difficult and very emotional when one of the prospective parents has a genetic disorder, such as Marfan syndrome. Before making any
More informationwww.njctl.org PSI Biology Mitosis & Meiosis
Mitosis and Meiosis Mitosis Classwork 1. Identify two differences between meiosis and mitosis. 2. Provide an example of a type of cell in the human body that would undergo mitosis. 3. Does cell division
More informationMCB41: Second Midterm Spring 2009
MCB41: Second Midterm Spring 2009 Before you start, print your name and student identification number (S.I.D) at the top of each page. There are 7 pages including this page. You will have 50 minutes for
More informationDuchenne muscular dystrophy (DMD)
Duchenne muscular dystrophy (DMD) What is Duchenne muscular dystrophy or DMD? Muscular Dystrophy is a group of inherited muscle disorders, in which muscles weaken over time. Duchenne muscular dystrophy
More informationCCR Biology - Chapter 7 Practice Test - Summer 2012
Name: Class: Date: CCR Biology - Chapter 7 Practice Test - Summer 2012 Multiple Choice Identify the choice that best completes the statement or answers the question. 1. A person who has a disorder caused
More informationTriploidy. rarechromo.org
Triploidy rarechromo.org Triploidy Triploidy is a disorder that arises at conception when a baby starts life in the womb with a complete extra set of chromosomes. Chromosomes are the microscopically small
More informationChapter 8: Variation in Chromosome Structure and Number
Chapter 8: Variation in Chromosome Structure and Number Student Learning Objectives Upon completion of this chapter you should be able to: 1. Know the principles and terminology associated with variations
More informationRECURRENT PREGNANCY LOSS DR.RAJALAKSHMI SRINIVASAN SPECIALIST GYNECOLOGIST ZULEKHA HOSPITAL DUBAI
RECURRENT PREGNANCY LOSS DR.RAJALAKSHMI SRINIVASAN SPECIALIST GYNECOLOGIST ZULEKHA HOSPITAL DUBAI RECURRENT PREGNANCY LOSS -RM Clinically recognized consecutive or non consecutive pregnancy losses before
More informationin vitro Fertilization (IVF)
Should an age limit be imposed on in vitro fertilization? Amanda Caster, Rong Hu, John Brothers II, and Barry Sexton Bioengineering and Bioinformatics Summer Institute 2005 University of Pittsburgh, Carnegie
More informationPreimplantation Genetic Diagnosis (PGD) for Fanconi Anemia and HLA matching
Preimplantation Genetic Diagnosis (PGD) for Fanconi Anemia and HLA matching Andria G. Besser, BEd, MS, CGC Licensed Genetic Counselor Reproductive Genetics Institute Chicago, IL Outline PGD overview In
More informationit right? activity (page 4) to highlight ethical issues associated with IVF
IN VITRO FERTILIZATION I V F In some cases, a sperm is directly injected into an egg IVF: THE MEETING OF SPERM AND EGG IN GLASS Louise Brown, the first test tube baby was born in 1978. Since then, there
More informationFluorescence in situ hybridisation (FISH)
Fluorescence in situ hybridisation (FISH) rarechromo.org Fluorescence in situ hybridization (FISH) Chromosomes Chromosomes are structures that contain the genetic information (DNA) that tells the body
More informationunderstanding your child's diagnosis of neurofibromatosis a guide for parents
understanding your child's diagnosis of neurofibromatosis a guide for parents What is Neurofibromatosis? As a parent, you want what is best for your child. Finding out that your child has a condition you
More informationTERATOGENESIS ONTOGENESIS
TERATOGENESIS ONTOGENESIS Inborn developmental defects Occured during prenatal development Are present by delivery At about 3-5 % newborns are affected. Inborn developmental defects 1. CHROMOSOMAL ABERRATIONS
More informationDeveloping Human Fetus
Period Date LAB. DEVELOPMENT OF A HUMAN FETUS After a human egg is fertilized with human sperm, the most amazing changes happen that allow a baby to develop. This amazing process, called development, normally
More informationFREQUENTLY ASKED QUESTIONS ABOUT IVF
FREQUENTLY ASKED QUESTIONS ABOUT IVF Is there something we can do to improve our chances of succes? Even though IVF treatment is a medical process on which you have no influence, there are a number of
More informationChoosing the sex of babies: Ethical debate
Choosing the sex of babies: Ethical debate This activity is designed to get students thinking about the moral and ethical implications of sex selection. The resources will encourage students to form their
More informationSex for the purposes of this class refers to 4 components
Sex for the purposes of this class refers to 4 components Gonadal sex Gonads or where gametes are produced by meiosis Somatic sex Somatic cells are cells that undergo mitosis. They can be divided into
More informationThe following chapter is called "Preimplantation Genetic Diagnosis (PGD)".
Slide 1 Welcome to chapter 9. The following chapter is called "Preimplantation Genetic Diagnosis (PGD)". The author is Dr. Maria Lalioti. Slide 2 The learning objectives of this chapter are: To learn the
More informationGenetic Testing in Research & Healthcare
We Innovate Healthcare Genetic Testing in Research & Healthcare We Innovate Healthcare Genetic Testing in Research and Healthcare Human genetic testing is a growing science. It is used to study genes
More informationReproductive System & Development: Practice Questions #1
Reproductive System & Development: Practice Questions #1 1. Which two glands in the diagram produce gametes? A. glands A and B B. glands B and E C. glands C and F D. glands E and F 2. Base your answer
More informationNon-Invasive Prenatal Testing (NIPT) Factsheet
Introduction NIPT, which analyzes cell-free fetal DNA circulating in maternal blood, is a new option in the prenatal screening and testing paradigm for trisomy 21 and a few other fetal chromosomal aneuploidies.
More informationArray Comparative Genomic Hybridisation (CGH)
Array Comparative Genomic Hybridisation (CGH) Exceptional healthcare, personally delivered What is array CGH? Array CGH is a new test that is now offered to all patients referred with learning disability
More informationGenetic Counseling: A Profession in the Making. Jessica Hooks, MS Genetic Counselor University of South Carolina
Genetic Counseling: A Profession in the Making Jessica Hooks, MS Genetic Counselor University of South Carolina Definition the process of helping people understand and adapt to the medical, psychological
More informationCELL DIVISION. STAGES OF MITOTIC DIVISION (Diag. C1)
1 CELL DIVISION Cell division is the process by which cells replicate in order to replace cell loss, repair tissue damage and reproduce the organism. Two types of cell division are encountered in the Eukaryotic
More informationOptional Tests Offered Before and During Pregnancy
Plano Women s Healthcare Optional Tests Offered Before and During Pregnancy Alpha-Fetoprotein Test (AFP) and Quad Screen These are screening tests that can assess your baby s risk of having such birth
More informationAssignment Discovery Online Curriculum
Assignment Discovery Online Curriculum Lesson title: In Vitro Fertilization Grade level: 9-12, with adaptation for younger students Subject area: Life Science Duration: Two class periods Objectives: Students
More informationPrenatal screening January 2015
Information on screening for Down s syndrome Prenatal screening January 2015 Screening for Down s syndrome in brief Your obstetrician, GP or gynaecologist will explain the details of the screening programme.
More informationPre-implantation Genetic Diagnosis (PGD)
Saint Mary s Hospital Department of Genetic Medicine Saint Mary s Hospital Pre-implantation Genetic Diagnosis (PGD) Information For Patients What is PGD? Pre-implantation genetic diagnosis (PGD) is a specialised
More informationWhat is Thalassemia Trait?
What is Thalassemia Trait? Introduction Being tested for the thalassemia trait is easy This book contains basic information about the thalassemia trait. Whether you have been diagnosed with the thalassemia
More informationInfluences on Birth Defects
Influences on Birth Defects FACTS About 150,000 babies are born each year with birth defects. The parents of one out of every 28 babies receive the frightening news that their baby has a birth defect There
More informationConsent for Frozen Donor Oocyte In Vitro Fertilization and Embryo Transfer (Recipient)
Name of Patient: Name of Partner: We, the Patient and Partner (if applicable) named above, are each over the age of twenty-one (21) years. By our signatures below, I/we request and authorize the performance
More informationMeiosis is a special form of cell division.
Page 1 of 6 KEY CONCEPT Meiosis is a special form of cell division. BEFORE, you learned Mitosis produces two genetically identical cells In sexual reproduction, offspring inherit traits from both parents
More informationReproductive System. from the Human Body System Series. catalog # 3322. Published & Distributed by AGC/UNITED LEARNING
Reproductive System from the Human Body System Series catalog # 3322 Published & Distributed by AGC/UNITED LEARNING 1560 Sherman Avenue Suite 100 Evanston, IL 60201 1-800-323-9084 24-Hour Fax No. 847-328-6706
More informationOverview of Genetic Testing and Screening
Integrating Genetics into Your Practice Webinar Series Overview of Genetic Testing and Screening Genetic testing is an important tool in the screening and diagnosis of many conditions. New technology is
More informationThe Rh Factor: How It Can Affect Your Pregnancy
The American College of Obstetricians and Gynecologists f AQ FREQUENTLY ASKED QUESTIONS FAQ027 PREGNANCY The Rh Factor: How It Can Affect Your Pregnancy What is the Rh factor? How does a person get the
More informationIntroduction Breast cancer is cancer that starts in the cells of the breast. Breast cancer happens mainly in women. But men can get it too.
Male Breast Cancer Introduction Breast cancer is cancer that starts in the cells of the breast. Breast cancer happens mainly in women. But men can get it too. Many people do not know that men can get breast
More informationChapter 13: Meiosis and Sexual Life Cycles
Name Period Chapter 13: Meiosis and Sexual Life Cycles Concept 13.1 Offspring acquire genes from parents by inheriting chromosomes 1. Let s begin with a review of several terms that you may already know.
More information7A The Origin of Modern Genetics
Life Science Chapter 7 Genetics of Organisms 7A The Origin of Modern Genetics Genetics the study of inheritance (the study of how traits are inherited through the interactions of alleles) Heredity: the
More informationPOLYCYSTIC OVARY SYNDROME
POLYCYSTIC OVARY SYNDROME Information Leaflet Your Health. Our Priority. Page 2 of 6 What is polycystic ovary syndrome? (PCOS) Polycystic ovary syndrome (PCOS) is the most common hormonal disorder in women
More informationGene Therapy and Genetic Counseling. Chapter 20
Gene Therapy and Genetic Counseling Chapter 20 What is Gene Therapy? Treating a disease by replacing, manipulating or supplementing a gene The act of changing an individual s DNA sequence to fix a non-functional
More information