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Ronnee Yashon and Michael R. Cummings



Copyright © Momentum Press, LLC, 2018.

All rights reserved. No part of this publication may be reproduced,

stored in a retrieval system, or transmitted in any form or by any
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except for brief quotations, not to exceed 400 words, without the prior
permission of the publisher.

First published in 2018 by

Momentum Press, LLC
222 East 46th Street, New York, NY 10017

ISBN-13: 978-1-94664-634-7 (paperback)

ISBN-13: 978-1-94664-635-4 (e-book)

Momentum Press Human Genetics and Society C

­ ollection

Cover and interior design by Exeter Premedia Services Private Ltd.,

Chennai, India

First edition: 2018

10 9 8 7 6 5 4 3 2 1

Printed in the United States of America.

When you look into a microscope at a cell you will see a large circle
near the center of the cell. This is the nucleus and holds the genetic
material, or, chromosomes. Chromosomes are made of long strands of
DNA ­(deoxyribonucleic acid) and, therefore genes. Humans have 46
­chromosomes, the focus of study in this book. First, we will explore
­chromosomal morphology, then how they are reproduced (during cell
division), and the normal and abnormal condition of chromosomes.
In this book, we will explore the biology of cells and their one import-
ant organelle: the nucleus. Within that organelle are the chromosomes,
long strands of protein that are made of DNA and control our heredity.

Chromosome, triplody, DNA, Down syndrome, karyotype, meiosis,
monosomy, morphology, mutation, nucleus, reduction division, SEM,
stereo microscope, trisomy, ultrasound, XX, XY
Chapter 1 Introduction��������������������������������������������������������������������1
Chapter 2 Chromosome Morphology����������������������������������������������5
Chapter 3 The Importance of Numbers�������������������������������������������7
Chapter 4 Chromosomal Aberrations��������������������������������������������11
Chapter 5 How Does a Fetus End Up With the Wrong
Number of Chromosomes?�������������������������������������������13
Chapter 6 The Best-Known Example���������������������������������������������21
Chapter 7 Diagnosis and Treatment�����������������������������������������������25
Chapter 8 Legal and Ethical Issues�������������������������������������������������27
Chapter 9 The Perfect Case?�����������������������������������������������������������29
Chapter 10 Human Chromosome MAP������������������������������������������33

Appendix A������������������������������������������������������������������������������������������41
About the Authors���������������������������������������������������������������������������������45

All living things have cells, nucleii, and chromosomes. As you can see,
in Table 1.1 the numbers of chromosomes vary a lot. As you look at the
chart, notice which creatures have more chromosomes than humans and
those with less than humans.1
It makes sense that the living things with the most chromosomes
would be the most evolved.
Oh, wait, you noticed that humans do not have the most chromo-
somes? Does this mean that we are not the most evolved?

Why do king crabs have more chromosomes than humans?

Table 1.1
Number of chromosomes Species
6 Mosquito
14 Peas, Tasmanian devil,
aloe vera plant
20–22 Cannabis, opossum
24–26 Tomato, snail, edible frog (frog legs)
30–34 Pistachios, red fox, sunflower
36–38 Earthworm, tiger, raccoon, meerkat
40–42 Mouse, mango, peanut, rhesus monkey
46–48 Humans (us), tobacco, orangutan, chimp
56–60 Elephant, strawberry, buffalo
90–100 Great white shark (82)
Carp (100)
Shrimp (92)
Over 150 Fern (216)
Atlas blue butterfly (448)
King crab (208)

 To see more chromosome counts, go to: https://en.wikipedia.org/wiki/


2 Chromosomes


Figure 1.1  Drawing of a cell

(1) Cell membrane (2) Cytoplasm (3) Endoplasmic Reticulum

(4) Mitochondria (5) The nucleus

When you look into a microscope at a cell, you probably will see
a large circle near the center of the cell. This is the nucleus that holds
the genetic material, the chromosomes. Chromosomes are made of long
strands of DNA (deoxyribonucleic acid), and therefore contain genes.
In this book, we will discuss the biology of cells and their most import-
ant organelle: the nucleus (See Figure 1.1). Within that organelle are the
chromosomes, long strands of protein that are made of DNA and control
our heredity. Within the nucleus, there are other important organelles,
but for today, the chromosomes stand alone.
The average human body contains about 37 trillion cells. Each is
­surrounded by a membrane, and contains a semi-liquid called cytoplasm
and a nucleus. Within the nucleus are 46 chromosomes. A drawing of a
cell is presented in Figure 1.1 above.
Chromosomes carry many genes each creating proteins that work
within our body. Each cell in your body has the same number of
­chromosomes as every other cell (the exception are red blood cells, which
are created in the bone marrow, and are replaced when they die).
This might seem odd because if the genes are the same in every cell,
they could not all be turned on everywhere, but genes are turned on only
when and where they are needed.
Example: the gene for pigment in the eye is active ONLY in the eye;
the gene for stomach acid is active in the stomach lining.

Hmm, what if they switched?

Introduction 3

Questions (in italics, like the one above) are scattered throughout the
chapters to follow. Watch for them and think about how they may apply
to you and the major case, found below.
Major case: A couple, X and Y, are pregnant and the doctor takes a
detailed family history, and after an ultrasound, the doctor asks the couple
whether they would take additional tests.
Abortion, 9 risk of, 18
Americans with Disabilities Act, 31 symptoms of, 21–22
Amniocentesis, 17 treatment, 26
ART. See Assisted reproductive with tracheoesophageal fistula,
techniques 29–32
Assisted reproductive techniques wrongful birth and wrongful life,
(ART), 25 28
Autosomes, 9 Down, John Langdon, 21

Breast cancer gene, 33 Human chromosome map, 33–40

Chorionic villus sampling (CVS), Indiana’s Child in Need of Services

17–18, 25 Act, 30
Chromosomal aberrations, 11–12
types of, 15 Karyotype, 10, 23
Chromosomes Koop, C. Everett, 30
amniocentesis, 17
chorionic villus sampling, 17–18 MAFP. See Maternal alpha fetal
map, human, 33–40 protein
morphology, 5–6 Male and female karyotype, 10
mutation and, 7–10 Maternal alpha fetal protein (MAFP),
overview, 1–3 15
problems in, 7–10 Meiosis, 13–14
ultrasound, 16 Microscopic development, 6
wrong number of, 13–20 Miscarriages, 9
See also Down syndrome Monosomy, 8, 15
CVS. See Chorionic villus sampling Mutation, 7–10

Decision-making model, 41–42

Nucleus, 2
Deoxyribonucleic acid (DNA), 2
DNA. See Deoxyribonucleic acid
Down syndrome, 15 Reagan, Ronald, 30
cases, 29–32 Reduction division, 8, 13
diagnosis, 25–26
karyotype, 23 Scanning electron microscope (SEM),
law, politics, ethics and genetics, 6
29–32 SEM. See Scanning electron
legal and ethical issues, 27–28 microscope
overview, 21–22 Stereo microscope, 6
resources, 40 Supreme Court of Indiana, 30
48 Index

Tracheoesophageal fistula, 29–32 X chromosome, 9–10, 12

Trisomy, 9, 11, 15, 21 XX chromosome, 10, 11
Turners Syndrome, 40 XY chromosome, 10, 11

Ultrasound, 16 Y chromosome, 9–10, 12