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    A Simple Guide To Genetic Diseases, Diagnosis, Treatment And Related Conditions
    A Simple Guide To Genetic Diseases, Diagnosis, Treatment And Related Conditions
    A Simple Guide To Genetic Diseases, Diagnosis, Treatment And Related Conditions
    Ebook321 pages1 hour

    A Simple Guide To Genetic Diseases, Diagnosis, Treatment And Related Conditions

    By Kenneth Kee

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    About this ebook

    This book describes Genetic Diseases, Diagnosis and Treatment and Related Diseases
    A genetic disease is a disease produced by an abnormality in the genetic makeup of an individual called a variation or a change of a gene called a mutation.
    The genetic abnormality can vary from minor to major from a single mutation in a single base in the DNA of a single gene to a large chromosomal abnormality involving the addition or subtraction of a complete chromosome or set of chromosomes.
    Some people become heir to genetic disorders from the parents, while acquired changes or mutations in a pre-existing gene or group of genes produce other genetic diseases.
    Genetic mutations can happen either randomly or due to some environmental exposure.
    There are 4 different types of genetic disorders (inherited), such as:
    A. Single gene inheritance
    Single gene inheritance is also termed Mendelian or monogenetic inheritance.
    Alterations or mutations that happen in the DNA sequence of a single gene produce this type of inheritance.
    Monogenetic disorders are relatively infrequent and are produced by a mutation in a single gene.
    The mutation may be evident on one or both chromosomes (one chromosome inherited from each parent).
    Some monogenic disorders are:
    1. Sickle cell disease,
    2. Cystic fibrosis,
    3. Polycystic kidney disease
    4. Marfan syndrome,
    5. Fragile X syndrome,
    6. Huntington's disease,
    7. Hemochromatosis
    8. Alpha and beta-thalassemias,
    9. Tay-Sachs disease.
    A mutated gene can be passed on through a family.
    B. Multi-factorial genetic inheritance
    Multi-factorial inheritance is also termed complex or polygenic inheritance.
    Multi-factorial inheritance disorders are caused by a combination of environmental factors and mutations in multiple genes.
    Most genetic disorders are multi-factorial inheritance disorders, meaning they are caused by a combination of inherited mutations in multiple genes, often working together with environmental factors.
    Some frequent chronic diseases are multi-factorial disorders.
    1. Heart disease,
    2. High blood pressure,
    3. Alzheimer's disease,
    4. Arthritis
    5. Diabetes
    6. Cancer and
    7. Obesity
    C. Chromosomal abnormalities
    Since chromosomes are the carriers of the genetic material, abnormalities in chromosome number or structure can cause disease.
    Chromosomal abnormalities normally occur as a result of a problem with cell division.
    Chromosomes injury is in the changes in the number or structure of complete chromosomes, the structures that carry genes
    Chromosome disorders are produced by an excess or deficiency of the genes that are sited on chromosomes, or by structural alterations within chromosomes.
    A specific type of blood cancer (chronic myeloid leukemia) may be produced by a chromosomal translocation, in which parts of 2 chromosomes (chromosomes 9 and 22) are exchanged.
    Down’s syndrome or trisomy 21 is a frequent genetic disorder that occurs when a person has 3 copies of chromosome 21 even though no individual gene on the chromosome is abnormal.
    There are many other chromosomal abnormalities:
    1. Turner syndrome (45, X0),
    2. Klinefelter syndrome (47, XXY)
    D. Mitochondrial genetic inheritance
    This form of genetic disorder is caused by mutations in the non-nuclear DNA of mitochondria.
    Mitochondrial DNA is always inherited from the female parent
    Nearly all diseases have a genetic constituent.
    Updates in genetic diseases involve a better knowledge of the DNA or microRNA.

    TABLE OF CONTENT
    Introduction
    Chapter 1 Genetic Diseases
    Chapter 2 Down’s Syndrome
    Chapter 3 Marfan’s Syndrome
    Chapter 4 Turner’s Syndrome
    Chapter 5 Klinefelter’s Syndrome
    Chapter 6 Hemophilia
    Chapter 7 Lynch Syndrome
    Chapter 8 G6PD Deficiency
    Chapter 9 Huntington’s Chorea
    Chapter 10 Sickle Cell Anemia
    Chapter 11 Thal

    LanguageEnglish
    PublisherKenneth Kee
    Release dateOct 20, 2019
    ISBN9780463209530
    A Simple Guide To Genetic Diseases, Diagnosis, Treatment And Related Conditions
    Author

    Kenneth Kee

    Medical doctor since 1972.Started Kee Clinic in 1974 at 15 Holland Dr #03-102, relocated to 36 Holland Dr #01-10 in 2009.Did my M.Sc (Health Management ) in 1991 and Ph.D (Healthcare Administration) in 1993.Dr Kenneth Kee is still working as a family doctor at the age of 74However he has reduced his consultation hours to 3 hours in the morning and 2 hours inthe afternoon.He first started writing free blogs on medical disorders seen in the clinic in 2007 on http://kennethkee.blogspot.com.His purpose in writing these simple guides was for the health education of his patients which is also his dissertation for his Ph.D (Healthcare Administration). He then wrote an autobiography account of his journey as a medical student to family doctor on his other blog http://afamilydoctorstale.blogspot.comThis autobiography account “A Family Doctor’s Tale” was combined with his early “A Simple Guide to Medical Disorders” into a new Wordpress Blog “A Family Doctor’s Tale” on http://ken-med.com.From which many free articles from the blog was taken and put together into 1000 eBooks.He apologized for typos and spelling mistakes in his earlier books.He will endeavor to improve the writing in futures.Some people have complained that the simple guides are too simple.For their information they are made simple in order to educate the patients.The later books go into more details of medical disorders.He has published 1000 eBooks on various subjects on health, 1 autobiography of his medical journey, another on the autobiography of a Cancer survivor, 2 children stories and one how to study for his nephew and grand-daughter.The purpose of these simple guides is to educate patient on health disorders and not meant as textbooks.He does not do any night duty since 2000 ever since Dr Tan had his second stroke.His clinic is now relocated to the Buona Vista Community Centre.The 2 units of his original clinic are being demolished to make way for a new Shopping Mall.He is now doing some blogging and internet surfing (bulletin boards since the 1980's) startingwith the Apple computer and going to PC.The entire PC is upgraded by himself from XT to the present Pentium duo core.The present Intel i7 CPU is out of reach at the moment because the CPU is still expensive.He is also into DIY changing his own toilet cistern and other electric appliance.His hunger for knowledge has not abated and he is a lifelong learner.The children have all grown up and there are 2 grandchildren who are even more technically advanced than the grandfather where mobile phones are concerned.This book is taken from some of the many articles in his blog (now with 740 posts) A Family Doctor’s Tale.Dr Kee is the author of:"A Family Doctor's Tale""Life Lessons Learned From The Study And Practice Of Medicine""Case Notes From A Family Doctor"

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      Book preview

      A Simple Guide To Genetic Diseases, Diagnosis, Treatment And Related Conditions - Kenneth Kee

      A

      Simple

      Guide

      To

      Genetic Diseases,

      Diagnosis,

      Treatment

      And

      Related Conditions

      By

      Dr Kenneth Kee

      M.B.,B.S. (Singapore)

      Ph.D (Healthcare Administration)

      Copyright Kenneth Kee 2019 Smashwords Edition

      Published by Kenneth Kee at Smashwords.com

      Dedication

      This book is dedicated

      To my wife Dorothy

      And my children

      Carolyn, Grace

      And Kelvin

      This book describes Genetic Diseases, Diagnosis and Treatment and Related Diseases which is seen in some of my patients in my Family Clinic.

      (What You Need to Know about Genetic Diseases)

      This e-Book is licensed for your personal enjoyment only. This eBook may not be re-sold or given away to other people. If you would like to share this book with another person, please purchase an additional copy for each reader.

      If you’re reading this book and did not purchase it, or it was not purchased for your use only, then please return to Smashwords.com and purchase your own copy.

      Thank you for respecting the hard work of this author.

      Introduction

      I have been writing medical articles for my blog: http://kennethkee.blogspot.com (A Simple Guide to Medical Disorder) for the benefit of my patients since 2007.

      My purpose in writing these simple guides was for the health education of my patients.

      Health Education was also my dissertation for my Ph.D (Healthcare Administration).

      I then wrote an autobiography account of my journey as a medical student to family doctor on my other blog: http://afamilydoctorstale.blogspot.com.

      This autobiography account A Family Doctor’s Tale was combined with my early A Simple Guide to Medical Disorders into a new Wordpress Blog A Family Doctor’s Tale on http://kenkee481.wordpress.com.

      From which many free articles from the blog was taken and put together into 800 eBooks.

      Some people have complained that the simple guides are too simple.

      For their information they are made simple in order to educate the patients.

      The later books go into more details of medical disorders.

      The first chapter is always from my earlier blogs which unfortunately tends to have typos and spelling mistakes.

      Since 2013, I have tried to improve my spelling and writing.

      As I tried to bring the patient the latest information about a disorder or illness by reading the latest journals both online and offline, I find that I am learning more and improving on my own medical knowledge in diagnosis and treatment for my patients.

      Just by writing all these simple guides I find that I have learned a lot from your reviews (good or bad), criticism and advice.

      I am sorry for the repetitions in these simple guides as the second chapters onwards have new information as compared to my first chapter taken from my blog.

      I also find repetition definitely help me and maybe some readers to remember the facts in the books more easily.

      I apologize if these repetitions are irritating to some readers.

      Chapter 1

      Genetic Diseases

      What is a genetic disease?

      A genetic disease is a disease produced by an abnormality in the genetic makeup of an individual called a variation or a change of a gene called a mutation.

      The genetic abnormality can vary from minor to major from a single mutation in a single base in the DNA of a single gene to a large chromosomal abnormality involving the addition or subtraction of a complete chromosome or set of chromosomes.

      Some people become heir to genetic disorders from the parents, while acquired changes or mutations in a pre-existing gene or group of genes produce other genetic diseases.

      Genetic mutations can happen either randomly or due to some environmental exposure.

      What are the 4 types of genetic disorders (inherited)?

      There are 4 different types of genetic disorders (inherited), such as:

      1. Single gene inheritance

      2. Multi-factorial inheritance

      3. Chromosome abnormalities

      4. Mitochondrial inheritance

      Single gene genetic inheritance

      Single gene inheritance is also termed Mendelian or monogenetic inheritance.

      Alterations or mutations that happen in the DNA sequence of a single gene produce this type of inheritance.

      Monogenetic disorders are relatively infrequent and are produced by a mutation in a single gene.

      The mutation may be evident on one or both chromosomes (one chromosome inherited from each parent).

      Some monogenic disorders are:

      1. Sickle cell disease,

      2. Cystic fibrosis,

      3. Polycystic kidney disease

      4. Marfan syndrome,

      5. Fragile X syndrome,

      6. Huntington's disease,

      7. Hemochromatosis

      8. Alpha- and beta-thalassemias,

      9. Tay-Sachs disease.

      A mutated gene can be passed on through a family.

      Every generation of children can inherit the gene that produces the disease.

      There are thousands of recognized single-gene disorders.

      These disorders are termed monogenetic disorders (disorders of a single gene).

      Single-gene disorders have varying patterns of genetic inheritance, such as:

      1. Autosomal dominant inheritance, in which only one copy of a defective gene (from either parent) is essential to produce the disorder;

      Dominant diseases are produced by the evidence of the disease gene on just one of the two inherited parental chromosomes.

      In dominant diseases, the possibility of a child inheriting the disease is 50 %.

      In a family setting, if the parents have 4 children, it may be possible that 2 of those children inherit the disease gene.

      Some dominant diseases are:

      a. Huntington's chorea and

      b. Marfan syndrome.

      2. Autosomal recessive inheritance, in which 2 copies of a defective gene (one from each parent) are required to cause the disorder; and

      Recessive diseases need the presence of the disease gene on both of the inherited parental chromosomes.

      In this case, the possibility of a child inheriting a recessive disease is 25 %.

      In the family setting, if the parents have 4 children, it may be more possible that only 1 child will form the disease.

      Some recessive diseases are:

      a. Cystic fibrosis and

      b. Tay-Sachs disease.

      3. X-linked inheritance, in which the defective gene is evident on the female, or X-chromosome.

      X-linked inheritance may be dominant or recessive.

      Some X-linked dominant inherited diseases are:

      a. Fragile X syndrome

      b. X-linked dominant porphyria

      Some X-linked recessive inherited diseases are:

      a. G6pd deficiency

      b. Hemophilia

      c. Duchene Muscle dystrophy

      Multi-factorial genetic inheritance

      Multi-factorial inheritance is also termed complex or polygenic inheritance.

      Multi-factorial inheritance disorders are produced by a combination of environmental factors and mutations in multiple genes.

      Most genetic disorders are multi-factorial inheritance disorders, meaning they are produced by a combination of inherited mutations in multiple genes, often working together with environmental factors.

      Behaviors are multi-factorial, such as multiple genes that are involved by a variety of other factors

      Multi-factorial inheritance disorders are produced by a combination of small inherited differences in genes, often working together with environmental factors.

      Different genes that affect breast cancer susceptibility have been evident on chromosomes 6, 11, 13, 14, 15, 17, and 22.

      Some frequent chronic diseases are multi-factorial disorders.

      1. Heart disease,

      2. High blood pressure,

      3. Alzheimer's disease,

      4. Arthritis

      5. Diabetes

      6. Cancer and

      7. Obesity

      Doctors are discovering more about the genetic contribution to behavioral disorders such as:

      1. Alcoholism,

      2. Mental illness and

      3. Alzheimer's disease.

      Multi-factorial inheritance also is linked with heritable traits such as fingerprint patterns, height, eye color, and skin color.

      Chromosomal abnormalities

      Chromosomes, distinct structures made of DNA and protein, are found in the nucleus of each cell.

      Since chromosomes are the carriers of the genetic material, abnormalities in chromosome number or structure can cause disease.

      Chromosomal abnormalities normally happen as a result of a problem with cell division.

      Chromosomes injury is in the alterations in the number or structure of complete chromosomes, the structures that carry genes

      Chromosome disorders are produced by an excess or deficiency of the genes that are sited on chromosomes, or by structural alterations within chromosomes.

      A specific type of blood cancer (chronic myeloid leukemia, CML) may be produced by a chromosomal translocation, in which parts of 2 chromosomes (chromosomes 9 and 22) are exchanged.

      Down’s syndrome or trisomy 21 is a frequent genetic disorder that happens when a person has 3 copies of chromosome 21 even though no individual gene on the chromosome is abnormal.

      There are many other chromosomal abnormalities such as:

      1. Turner syndrome (45, X0),

      2. Klinefelter syndrome (47, XXY), and

      3. Cri du chat syndrome, or the cry of the cat syndrome (46, XX or XY, 5p-).

      Diseases may also happen due to chromosomal translocation in which parts of 2 chromosomes are exchanged.

      Mitochondrial genetic inheritance

      This form of genetic disorder is produced by mutations in the non-nuclear DNA of mitochondria.

      Mitochondria are small round or rod-like organelles that are affected in cellular respiration and present in the cytoplasm of plant and animal cells.

      Each mitochondrion may have 5-10 circular sections of DNA.

      Since egg cells, but not sperm cells, retain their mitochondria during fertilization, mitochondrial DNA is always passed on from the female parent.

      Nearly all diseases have a genetic constituent.

      Some diseases are produced by mutations that are inherited from the parents like sickle cell disease.

      Other diseases are produced by acquired mutations in a gene or group of genes that happen during a person's life.

      Such mutations are not passed on from a parent, but happen either randomly or because of some environmental exposure (such as cigarette smoke).

      These are many cancers, and some types of neurofibromatosis.

      Infrequently, one of these monogenic diseases can happen spontaneously in a child when his/her parents do not have the disease gene, or there is no history of the disorder in the family.

      This can happen from a new mutation happening in the egg or sperm that gave rise to that child.

      Frequent diseases can also be produced by rare hereditary mutations in a single gene.

      Breast cancer, where inheritance of a mutated BRCA1 or BRCA2 gene provides significant risk of developing the disease is one form of this disease.

      What is the human genome?

      The human genome is the complete treasury of human inheritance.

      The sequence of the human genome acquired by the Human Genome Project, finished in April 2003, gives the first holistic view of the genetic heritage.

      The 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes) between them contain almost 3 billion base pairs of DNA that has about 20,500 protein-coding genes.

      The coding regions comprise less than 5% of the genome (the function of all the remainder DNA is not clear) and some chromosomes have a higher concentration of genes than others.

      Most genetic diseases are the direct effect of a mutation in one gene.

      One of the most difficult problems ahead is to further explain how genes supply to diseases that have a complex pattern of inheritance, such as in the cases of diabetes, asthma, cancer, and mental illness.

      In all these instances, no one gene has the power to say whether a person will form the disease or not.

      It is possible that more than one mutation is needed before the disease is present, and a number of genes may each make a subtle addition to a person's vulnerability to a disease; genes may also involve how a person responds to environmental factors.

      Chapter 2

      Down’s Syndrome

      (Chapter from A Simple Guide to Down's Syndrome 2014 by Kenneth Kee)

      Down's Syndrome is a genetic defect of the chromosomes syndrome

      It causes an increase of the chromosome 21 resulting in 47 chromosomes.

      The patient has obliquely set eyes and flattened facies called mongolism

      Some Down’s Syndrome can have 47 or 48 chromosomes or mosaicism

      It is characterized by slit eyes, epicanthyl folds and dry skin

      There is also mental retardation and decreased intellectual functioning

      One third of Down’s Syndrome has congenital heart disease

      Most Down’s Syndrome occurs with increasing maternal age

      There is no therapeutic cure for Down’s Syndrome

      Prevention is by amniocentesis for Trisomy 21 chromosome.

      Treatment is only necessary for congenital heart condition.

      Down syndrome is able to live at home and protected environment.

      -An original poem by Kenneth Kee

      What is Down's syndrome?

      Down syndrome is a genetic condition when a person has 47 chromosomes instead of the usual 46.

      Down syndrome is a genetic condition in which the affected person is born with mental disability and characteristic features.

      What are the features of Down’s Syndrome?

      These characteristic features have been called mongolism with:

      1. Obliquely set eyes

      2. Narrow palpebral fissures

      3. Epicanthyl folds

      4. Short stubby nose

      5. Flattened facies

      6. Short stature

      7. Generalized muscular hypo-tonia

      8. Dry skin

      9. Thin fine hair

      10. Underdeveloped genitalia

      Most people with Down's syndrome are not able to look after themselves because of their mental disability.

      But many of them have gentle and endearing personalities.

      There is no medical cure for this condition.

      What causes Down's syndrome?

      Cause:

      Chromosomes are tiny structures in our body cells which can be seen only with a special microscope.

      They contain the genes which determine the characteristics of a person.

      Abnormal person has 23 pairs of matching chromosomes in each cell.

      Each pair is different and given a number except for the sex chromosomes which are named XY in the male and XX in the female.

      In most cases, Down syndrome happens when there is an extra copy of chromosome 21.

      This form of Down syndrome is termed Trisomy 21.

      The extra chromosome produces disorders with the way the body and brain develop.

      Down syndrome is one of the most frequent causes of human birth defects.

      What are the Types of Down Syndrome?

      There are 3 genetic variants that can cause Down syndrome:

      1. Trisomy 21 is the commonest type in which all the cells have an extra chromosome 21.

      Here something goes wrong during egg formation in the mother so that the mother has an abnormal egg with extra chromosomes no.21.

      The child will then get an extra chromosome no.21.

      The cause of this abnormal egg formation is not known but occurs more often with the mother's age.

      2. Translocation Down syndrome happens when the extra chromosome 21 is attached to another chromosome.

      During cell division the embryo may get the attached chromosome and so have an extra chromosome no 21 and get Down's Syndrome.

      3. Mosaic Down syndrome is another form of Down's Syndrome in which only some cells have an extra chromosome 21.

      What are the Risk factors of getting Down's Syndrome?

      Risk factors include:

      1. Maternal age above 35 years.

      Most cases of Down's syndrome are born to women aged 35 and above.

      The risk of a woman above age 36 conceiving a child with Down syndrome is 1 in

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