UNIVERSITY OF LUZON

Dagupan City

General Psychology
S.Y. 2006-2007

Submitted to :
MRS. MARLYN CAMPOS

Submitted by:
SANDRA DEE F. ARCEO
GROUP NO. I

LEADER: JERRY F. REYES JR.

MEMBERS : SANDRA DEE ARCEO
CHRISTIAN BAUTISTA
MICHAEL J. FERRER
ROBERT FERNANDEZ
HAZEL JOY P ASCO
 Table of Contents

Page

Acknowledgments 1

Table of Contents 2

Introduction 3

Body 4

Conclusion 12

Bibliography 13
 Acknowledgment

This simple work of art is hereby endorsed by the author to the following

personages, especially to my instructor – MRS. CAMPOS who guided me and

acted as my critic of my activity trying to meet the deadline of my piece.

To my parents, who in one way or other are very supportive in all activities

in school through their financial support;

To all of you, my heartfelt gratitude and thanks for all the things that you

have done to me.

 INTRODUCTION

Chromosome abnormalities are problems that exist in the genetic structure of a

baby's chromosomes. Also referred to as chromosome disorders, these abnormalities can

appear in different ways in your baby. Most chromosome abnormalities involve an extra

copy of a particular chromosome. Sometimes chromosomes might be broken or arranged

in the wrong order. Gene abnormalities, though rare, also occur, especially if the parent

also has that gene abnormality.

Abnormal chromosomes are caused by a problem in the development of the sperm

or egg cell. No one really knows what causes these problems, but chromosomal

abnormalities due seem to appear more frequently as a mother ages.

Typically, chromosomal abnormalities cause abnormal phsycial appearance

though they can also cause delayed mental development. The effects of the chromosomal

abnormality depends upon what actually went wrong with baby's chromosomes.
 BODY OF THE REPORT

Chromosomal Abnormalities

Chromosomes are made up of DNA, the building blocks of life. Chromosomes are

almost like strings, and they contain every piece of information about our genetic

makeup.

Everybody has 23 pairs of chromosomes, or 46 chromosomes in total. Each pair is

inherited from your parents - one from your mother and one from your father. Two of

your chromosomes are responsible for determining what sex you are - for males the sex

chromosome is XY and for females it is XX.

About 1 in 200 babies is born with a chromosomal abnormality. Down syndrome,

in which a baby is born with an extra chromosome 21, is among the most common

chromosomal abnormalities, and the one whose effects are familiar to most people.

Children with Down syndrome have varying degrees of mental retardation, characteristic

facial features and, often, heart defects and other problems.

However, there are many other chromosomal abnormalities besides Down

syndrome. Some are less severe than Down syndrome, and others are more severe, or

even fatal before birth. Many, but not all, children with chromosomal abnormalities have

mental retardation, learning disabilities, or behavioral problems. Understanding what

chromosomes are may help you understand the wide range of problems chromosomal

abnormalities can cause.

What are chromosomes?

Chromosomes are tiny string-like structures in cells of the body. They contain the

estimated 20,000 to 25,000 human gene pairs that determine traits like eye and hair

color, as well as direct the growth and development of every part of our physical and

biochemical systems.

Each person normally has 23 pairs of chromosomes, or 46 in all. We normally

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 broken or rearranged. Errors in the number or structure of

chromosomes cause a wide variety of birth defects ranging from mild to severe.

What causes chromosomal abnormalities?

Chromosomal abnormalities generally result from an error that occurred when an

egg or sperm cell was developing. It is not known why these errors occur. (The March of

Dimes supports grantees who are trying to find out the causes of these errors, in order to

help prevent chromosomal abnormalities.) However, 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 reproductive

cells have only 23 unpaired chromosomes. When an egg and sperm cell unite -- and

pregnancy begins -- they form a fertilized egg with 46 chromosomes.

 But sometimes something goes wrong before pregnancy begins. In the process of

cell division, an error occurs that leaves 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 .In

most cases, an embryo with the wrong number of chromosomes will not survive. In such

cases, the pregnant woman has a miscarriage, often without knowing it. Up to 70 percent

of first trimester miscarriages are caused by chromosomal abnormalities.

Other accidents also can occur, usually before pregnancy begins, that can alter the

structure of one or more chromosomes. While such individuals may have the normal

number of chromosomes, small pieces of a chromosome (or chromosomes) may be

deleted, duplicated, inverted, misplaced, or exchanged with part of another chromosome.

These structural rearrangements may also result in pregnancy loss and birth defects.

What are the most common chromosomal abnormalities?

Down syndrome is among the most common of these disorders, affecting about 1

in 800 to 1000 live-born babies. The risk of this and other trisomies increases with the

mother’s age. The risk of having a live-born baby with Down syndrome is about 1 in

1250 for a woman at age 25, 1 in 1000 at 30, 1 in 400 at 35, and 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.

Babies also can be born with extra copies of chromosomes 13 or 18. These

trisomies are usually much more severe than Down syndrome, but fortunately less

common, each affecting about 1 in 5000 babies. Babies with trisomies 13 or 18 generally

have severe mental retardation and many physical birth defects. Sadly, most affected

babies die before their first birthday.

One of the 23 pairs of human chromosomes is called the sex chromosomes.

Among the most common chromosomal abnormalities are those that involve missing or

extra sex chromosomes (referred to as X and Y). Normally, females have two X

chromosomes, and males have one X chromosome and one Y chromosome.

Abnormalities involving the X or Y can affect sexual development and may cause

infertility,growth abnormalities, and in some cases, behavioral and learning problems.

However, most affected individuals live essentially normal lives.

Turner syndrome is a sex chromosome abnormality that affects about 1 in 2500

girls. Girls with Turner syndrome have only one X chromosome, instead of the normal

two. They usually are sterile, and do not undergo normal pubertal changes unless they are

treated with sex hormones. Affected girls are short, though treatment with growth and sex

hormones can help increase height. Some have other health problems, including heart

defects. Girls with Turner syndrome have normal intelligence, though some have

difficulties with mathematics and spatial concepts.

 About 1 in 1000 to 2000 females has an extra X chromosome, referred to as triple

X. These girls, who tend to be tall, have no consistent pattern of physical abnormalities,

undergo normal puberty, and appear to be fertile. Intelligence is normal, though learning

disabilities are fairly common. Because these girls are healthy and have a normal

appearance, parents are most likely to know their daughter has this chromosomal

abnormality only if they’ve undergone prenatal testing (with amniocentesis or CVS).

Klinefelter syndrome is a sex chromosome abnormality that affects about 1 in 600

to 800 boys. 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 tend to be tall with normal intelligence, though learning

disabilities are common. As a group, they have more problems with judgment and

impulse control than XY males. As adults, they produce lower than normal amounts of

the male hormone testosterone (and often are treated with this hormone) and are infertile.

New techniques for analyzing chromosomes have made it possible to identify tiny

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 abnormalities include: deletions (small missing sections); microdeletions (a

minute amount of missing material that may include only a single gene); translocations (a

section of a chromosome is attached to another chromosome); and inversions (a section

of chromosome is snipped out and reinserted upside down). Some of these abnormalities

are so rare that they have been known to affect only one or a few children. In such cases,

it may be impossible for a doctor to predict a child’s long-term health and development.
 Some rare disorders are caused by minor chromosomal changes. For example, a

tiny deletion on chromosome 15 can cause Prader-Willi syndrome (characterized by

mental retardation, extreme obesity and other problems), while another on chromosome 5

causes cri-du-chat (cat cry) syndrome (characterized by a cat-like, high-pitched cry in

infancy, mental retardation and physical abnormalities). Small deletions from a specific

section of chromosome 22 also cause the heart defects, cleft palate and other problems

seen in DiGeorge and velocardiofacial syndromes.

Whether a child has a rare or common chromosomal abnormality, it is important

that he or she be evaluated as an individual. Even people with apparently identical

chromosomal abnormalities can differ from each other substantially. How a person is

affected depends substantially but not wholly on the exact genetic material involved --

each chromosome contains hundreds to thousands of genes, and each gene influences a

different characteristic or body function.

New techniques of analyzing chromosomes sometimes can pinpoint exactly

where missing or extra genetic material comes from. If doctors know what genes may be

contained in that section, and their function, they some-times can give parents a better

prediction of a child’s future development.

Events During the Process of Fertilization

The term "conception" commonly refers to fertilisation, but is sometimes defined

as implantation or even "the point at which human life begins" and is thus a subject of

semantic arguments within the abortion debate. Gastrulation is the point in development

when the implanted blastocyst develops three germ layers, the endoderm, the exoderm

and the mesoderm. It is at this point that the genetic code of the father becomes fully
involved in the development of the embryo. Until this point in development, twinning is

possible. Additionally, interspecies hybrids which have no chance of development

survive until gastrulation. However this stance is not entirely warranted since human

developmental biology literature refers to the "conceptus" and the medical literature

refers to the "products of conception" as the post-implantation embryo and its

surrounding membranes.[2] The term "conception" is not usually used in scientific

literature because of its variable definition and connotation.

Meiosis results in a random segragation of the genes contributed from each

parent. Each parent organism generally has the same genetic makeup, but differs for a

fraction of their genes. Therefore, each gamete produced a person will be genetically

different from the others from that person, as well as from the gametes produced by

another person. When gametes first fuse at fertilisation, the chromosomes donated by the

parents are combined, and, in humans, this means that (2²²)², chromosomally different

zygotes are possible for the non-sex chromosomes, even assuming no chromosomal

crossover. If crossover occurs once, then on average (4²²)² genetically different zygotes

are possible for every couple, not considering that crossover events can take place at most

points along each chromosome. The X and Y chromosomes do not undergo crossover

events, so are excluded from the calculation. Note that the mitochondrial DNA is only

inherited from the maternal parent.

 CONCLUSION

This bias is clearly understood by considering the effect on survival of minor

versus major genetic lesions. For example, when newborn children are screened, it is

found that roughly 1 in every 200 has a chromosomal abnormality. Some of these

children are phenotypically normal, while others have obvious, sometimes severe

manifestations of disease. By definition however, these children have chromosomal

disorders at the "mild" end of the spectrum because they are compatible with survival to

term.

A much higher incidence of chromosomal disease is seen if one looks earlier in

gestation. Approximately half of the human fetuses that are spontaneously aborted during

the first trimester are chromosomally abnormal, reflecting chromosomal disorders severe

enough to disrupt prenatal development.

If one looks at chromosomes in preimplantation embryos, even higher numbers of

abnormalities are seen: 5-10% of viable blastocysts collected from cattle and pigs were

cytogenetically abnormal. Finally, some chromosomal abnormalities are essentially never

seen, presumably because they are so profound as to cause death shortly after

fertilization.

The concepts on incidence presented above refer to the broad spectrum of

chromosomal disorders. It is important to recognize that certain abnormalities can reach a

very high and important prevalence in small populations of animals. This has been
vividly observed with certain types of translocations, which reduce fertility yet cause

little if any disease in carriers. A classic example is the 1/29 centric fusion in cattle,

which has at times reached a prevalence of up to 30% in certain breeds within a particular

country. Our understanding of the causes of chromosomal disorders is limited at best.

Evidence has been presented to implicate such things as ionizing radiation,

autoimmunity, virus infections and chemical toxins in the pathogenesis of certain

disorders. It's easy to understand how, for example, radiation could break DNA and lead

to deletions or, after rejoining of the DNA by cellular enzymes, such lesions as

translocations
 BIBLIOGRAPHY

American Academy of Pediatrics. Health supervision for children with Turner

syndrome. Pediatrics, volume 96, number 6, December 1995, pages 1166-
1173.

American College of Obstetricians and Gynecologists. Prenatal diagnosis of fetal

chromosomal abnormalities. ACOG Practice Bulletin, volume 27, May
2001.

Barnes, A.M., and Carey, J.C. Common problems of babies with trisomy 18 or 13.
Rochester, NY, Support Organization for Trisomy 18, 13, and Related
Disorders, January 11, 2002.

Linden, M.G., et al. Intrauterine diagnosis of sex chromosome aneuploidy.

Obstetrics & Gynecology, volume 87, number 3, March 1996, pages 468-
475.Robert Plomin (Editor), John C. Defries, Gerald E. McClearn, Peter
McGuffin. Reasoning and Concept Development 2000, 4th edition, 449 pp.