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For centuries, people with Down syndrome have been alluded to in art,
literature and science. It wasn't until the late 19th century, however, that John
Langdon Down, an nglish physician, published an accurate description o! a
person with Down syndrome. It was this scholarly wor", published in 1#$$, which
earned Down the recognition as the %!ather% o! the syndrome. &lthough other
people had previously recogni'ed the characteristics o! the syndrome, it was Down
who described the condition as a distinct and separate entity.
(hroughout the )*th century, advances in medicine and science enabled
researchers to investigate the characteristics o! people with Down syndrome. In
19+9, the French physician, Jerome Le,eune, identi!ied Down syndrome as a
chromosomal anomaly. Instead o! the usual -$ chromosomes present in each cell,
Le,eune observed -. in the cells o! individuals with Down syndrome. It was later
determined that an e/tra partial or complete )1st chromosome results in the
characteristics associated with Down syndrome.
0hromosomal abnormalities are a widespread medical problem, with Down
syndrome being the most common genetic condition. 1ne in every #** to 1,***
children is born with Down syndrome.
(he most common !orm o! Down syndrome is called (risomy )1, because it
involves an e/tra copy o! the )1st chromosome. (wenty to )+ percent o! children
conceived with Down syndrome survive past birth.
Down syndrome a!!ects people o! all races and economic levels. 2omen
age 3+ and older have a signi!icantly increased ris" o! having a child with Down
syndrome. & 3+4year4old woman has a one in -** chance o! conceiving a child
with Down syndrome and this chance increases gradually to one in 11* by age -*.
&t age -+ the incidence becomes appro/imately one in 3+.
In addition, individuals with Down syndrome have a higher incidence o!
certain medical problems and the study o! Down syndrome may yield important
brea"throughs in those areas.
1. 2hat is the de!inition o! Down syndrome5
). 6ow are the signs and symptoms o! Down syndrome5
3. 6ow is the incidence and origin o! human trisomies5
-. 2hat is the de!inition o! human genetic5
+. 6ow is the structure o! human genetic5
$. 2hat is genetic disorders5
.. 6ow can genetic disorders be resulted as Down syndrome5
1. (o share in!ormations about Down 7yndrome,
). (o share in!ormations about genetic disorders,
3. (o discuss about Down 7yndrome as one o! many results !rom
genetic disorders.
8y doing a library and networ"ing researches as re!erences and descriptive
analysis carries out the method o! writing this paper.
(able o! 0ontent
0hapter I : Introduction
0hapter II : Down syndrome
0hapter III : (he molecular basis o! genetic disorders
0hapter I; : Down syndrome due to genetic disorders
II. A. Overview
Down syndrome is a genetic disorder that results in varying degrees o!
physical and mental retardation. (he condition varies in severity, causing
developmental problems that range !rom mild to severe. (he disorder occurs as a
result o! e/tra genetic material.
In most people, the genes are contained on )3 pairs o! chromosomes, !or a
total o! -$ chromosomes. =ost people with Down syndrome have an e/tra copy o!
the >o. )1 chromosome, !or a total o! -. chromosomes.
Down syndrome is the most common chromosomal disorder. It a!!ects
people o! all ages, races and economic levels. It is the most !re?uently occurring
chromosomal abnormality, occurring once in appro/imately every #** to 1,*** live
births. It is also a common cause o! miscarriage.
2hat is the chance o! having a second child with Down syndrome5 In
general, it is estimated that the chance o! having a second child with trisomy )1 or
mosaic Down syndrome is about 1 in 1**. (he incidence is higher i! one parent is
a carrier o! a translocated cell.
II. B. Wa! Ca"#e# D$w% S&%'r$(e)
Down syndrome is usually caused by an error in cell division called non4
dis,unction. 6owever, two other types o! chromosomal abnormalities, mosaicism
and translocation, are also implicated in Down syndrome. <egardless o! the type
o! Down syndrome which a person may have, all people with Down syndrome
have an e/tra, critical portion o! the number )1 chromosome present in all, or
some, o! their cells. (his additional genetic material alters the course o!
development and causes the characteristics associated with the syndrome.
II. C. H$w i# D$w% S&%'r$(e Dia*%$#e' i% A New+$r%)
(he diagnosis o! Down syndrome is usually suspected a!ter birth as a
result o! the baby's appearance. It is a di!!icult time, coupled with the natural
stresses o! childbirth. (hough there is no easy way to be in!ormed, most !amilies
agree that having the baby present, being together and being told as soon as
possible is the best way to proceed.
(here are many physical characteristics which !orm the basis !or
suspecting an in!ant has Down syndrome. =any o! these characteristics are !ound
in the general population o! individuals who do not have Down syndrome. I! Down
syndrome is suspected, a "aryotype will be per!ormed to ascertain the diagnosis.
7ome in!ants with D7 have only a !ew o! these traits, while others have many.
II. D. Te Si*%# a%' S&(,!$(#
0hildren with Down syndrome have a distinct !acial appearance. >ot all
children with D7 have the same !eatures, some o! the more common !eatures are:
Flattened !acial !eatures
9rotruding tongue
7mall nose
@pward slanting eyes
@nusually shaped ears
0hildren with Down syndrome may also have:
9oor muscle tone
& single crease in the palm
<elatively short !ingers
/cessive !le/ibility
In!ants born with Down syndrome may be o! average si'e, but typically
they grow slowly and remain smaller than other children o! similar age.
II. E. P$#i!i$% S!a!e(e%! $% Ra-ia. Di#,ari!&
In June )**1, a study was published by the 0enter !or Disease 0ontrol and
9revention indicating a star" disparity in the median li!e spans o! people with Down
syndrome. (he study, based on an analysis o! 3-,*** multiple4cause mortality !iles
!rom 19$# to 199., indicated that the that the median age at death !or white people
with Down syndrome is +* years, while it is )+ years !or blac" people and 11 years
!or people o! other races.

II. F. Te I%-."#ive E'"-a!i$%
(he inclusion o! students with Down syndrome in typical classrooms is a
more rewarding e/perience than e/pected !or both students and classmates,
according to a recently released national study.
Inclusion is the educational process by which all students, with or without
disabilities, are educated together, with su!!icient support, in age4appropriate,
regular education programs in their neighborhood schools. 7upport is o!ten
provided in a %push4in% Ain4class aidB, or %pull4out% Avisits to a resource roomB basis.
Factors which directly a!!ect the success o! an inclusive e/perience, as
measured by both parents and teachers, include a match o! teacher personality
and style to the s"ills o! a student.
(eachers who are !le/ible, willing to modi!y classroom materials, and who
utili'e hands4on learning tools, are the best catalysts !or achievement.
(hose parents whose children with Down syndrome had !riends in class
rated the inclusion e/perience the most success!ul and reported great bene!its in
the areas o! communication, sel! esteem and independence. (eacher preparation
is important, but suprisingly, !ormal training !rom the school district doesnCt appear
to be relevant.
II. G. Te C$(,.i-a!i$%#
>early +*D o! children with Down syndrome have some type o! heart
de!ect. (hese heart problems can be li!e threatening and may re?uire surgery in
early in!ancy. (hese children may also be at increased ris" o! developing a variety
o! other health conditions, including gastrointestinal bloc"age, thyroid problems,
hearing loss or poor vision. 1ther complications may include:
Le"/e(ia. Eoung children with Down syndrome have 1* to 1+ times the ris" o!
developing leu"emia as do children who don't have Down syndrome.
I%0e-!i$"# 'i#ea#e#. 0hildren with Down syndrome are much more
susceptible to in!ectious diseases because o! abnormalities in their immune
I(,aire' i%!e..e-!"a. 'eve.$,(e%!. Intellectual development is impaired !or
children with Down syndrome. (he degree o! mental retardation ranges !rom
mild to moderate.
De(e%!ia. Later in li!e, people with Down syndrome have a greatly increased
ris" o! dementia. 7ymptoms o! dementia o!ten appear be!ore age -* !or people
with Down syndrome.
Li!e spans have increased dramatically !or people with Down syndrome. In
19)9, a baby born with Down syndrome o!ten didn't live to age 1*. 8y 19#3, that
!igure was )+ years. (oday, someone with Down syndrome can e/pect to live to -*
and beyond, depending on the severity o! his or her health problems.
ach human somatic cell contains two copies o! the entire human genetic
program or %genome,% amounting to $ billion base pairs o! D>&. D>& is a double F
stranded heli/, each %step% o! the heli/ comprising a base !rom one strand bonded
to that !rom the other. D>& is portioned into -$ A)3 pairsB large !ragments, each
contained in a speci!ic autosomal chromosome or the G or E chromosome. (he
%gene% is the !unctional entity o! in!ormation.
&ppro/imately +*,*** genes are thought to be encoded in human D>&. In
any one type o! cell, only a subset o! these genes is actually active and operates
to maintain the viability and speciali'ed !unctions o! the cell. 7ome genes are
responsible !or the speciali'ed !unction o! a cell, li"e the globin genes o! a red
blood cell. 1ther genes are considered to have a %house"eeping% !unction, that is,
genes that are needed !or the maintenance o! basic cellular !unctioning.
It is surprising that only a small !raction o! the D>& that ma"es up the
human genome appears to be represented by genes, perhaps only about 1*D o!
the total. =ost o! the human genome consists o! D>& se?uences without any clear
!unction. 7ome o! this noncoding D>& may be important in the regulation o! gene
e/pression or in aspects o! chromosome structure and !unction.
& gene is a !unctional unit o! D>& !rom which <>& is copied AtranscribedB.
=ost genes implicated in human disease e/press a class o! <>& that is translated
by cellular machinery into protein Amessenger <>& Hm<>&IB. Jenes range in
length !rom between several hundred base pairs to more than ) million base pairs
o! D>&
&!ter a gene se?uence has been copied to an <>& and that <>& has
subse?uently matured, the <>& is transported to the cytoplasm o! a cell. In the
cytoplasm, the <>& is translated by the ribosome and associated en'ymes into a
nascent protein. In some cases, the protein remains in the cytoplasm, where it will
ultimately !unction.
(he process o! somatic cell division is called mitosis. It is during mitosis,
speci!ically the prophase stage o! mitosis, that chromosomes are visible and easy
to identi!y !or "aryotyping. (here is another !orm o! cell division in which the diploid
cell A-$ chromosomesB becomes haploid A)3 chromosomesB. (his process ta"es
place in the !ormation o! the germ cells and is called meiosis.
MITOSIS. (his process o! cell division occurs in most cells o! the body. In
mitosis two genetically identical daughter cells are produced !rom a single parent
cell. 9rior to cell division D>& replication has occurred so that there is a doubled
amount o! D>& and the chromosomes contain two identical sister chromatids.
=itosis is divided into stages. Pr$,a#e is characteri'ed by spiraling o! the
chromosome threads into coils to !orm microscopically identi!iable chromosomesK
the nuclear membrane and the nucleolus disappear and the mitotic spindle !orms.
In (e!a,a#e, the chromosomes condense and are clearly visible as distinct
structures. (he centromeres o! the chromosomes attach to the microtubules o! the
mitotic spindle and the chromosomes align at the middle o! the cell along the
spindle. A%a,a#e is characteri'ed by division o! the chromosomes along their
longitudinal a/is to !orm two daughter chromatids and migration o! each chromatid
o! the pair to opposite poles o! the cell. Te.$,a#e, which completes mitosis, is
characteri'ed by reconstitution o! the nuclear membrane and nucleolus, and
duplication o! the centriolus as well as cytoplasmic cleavage to !orm the two
daughter cells.
MEIOSIS. (his is the !orm o! cell division that occurs to produce germ cells
or gametes Asperm and eggB. It is divided into two parts: meiosis I and meiosis II.
D>& replication occurs be!ore meiosis I, and the cell begins division with two times
the normal cellular amount o! D>&. In meiosis I, each daughter cell gets one o! a
duplicated chromosome o! each pair. &t the beginning o! meiosis II, each cell
contains )3 chromosomes, each with a duplicated pair o! chromatids. In meiosis II,
the duplicated pair separate and each daughter cell ends up with one o! each o!
the )3 chromosomes, that is, there will be !our daughter cells, each with a haploid
Ahal! the normal numberB set o! chromosomes.
(here is e/change between chromosomes Acrossing over o! chromosome
segmentsB during meiosis leading to new alignment and combination o! genes.
(wo common errors o! cell division occur during meiosis that result in abnormal
numbers o! chromosomes and chromosomal anomalies. (he !irst is
%$%'i#1"%-!i$%, in which two chromosomes !ail to separate and migrate together
into one o! the new cells, producing one cell with two copies o! the chromosome
and one with no copy. (he second is a%a,a#e .a*, in which a chromatid is lost
because it !ails to move ?uic"ly enough during anaphase to become incorporated
into one o! the new daughter cells.
IV. A. Cr$($#$(a. A+%$r(a.i!ie#
0hromosomal anomalies occur in *.-D o! live births. (hey are an important
cause o! mental retardation and congenital anomalies. 0hromosomal anomalies
are present in much higher !re?uencies among spontaneous abortions and still
births. (he phenotypic anomalies that result !rom chromosomal aberrations are
mainly due to imbalance o! genetic in!ormation. 0hromosomal anomalies include
abnormalities o! chromosome number and structure.
IV. B. W& i# D$w% S&%'r$(e re0erre' !$ a# a 2*e%e!i- -$%'i!i$%2)
(he human body is made o! cellsK all cells contain a center, called a
nucleus, in which genetic material is stored. (his genetic material, "nown as
genes, carries the codes responsible !or all our inherited characteristics.
Jenes are grouped along rod4li"e structures called chromosomes.
>ormally, the nucleus o! each cell contains )3 pairs o! chromosomes, hal! o! which
are inherited !rom each parent.
In Down syndrome, the cells usually donCt contain -$, but -.
chromosomesK with the e/tra chromosome being a number )1. 8ecause 9+
percent o! Down syndrome cases occur because there are three copies o! the )1st
chromosome, it is re!erred to as %trisomy )1.%
0hromosomes may be studied by e/amining blood or tissue cells.
Individual chromosomes are identi!ied, stained and numbered !rom largest to
IV. C. N$%'i#1"%-!i$%3 M$#ai-i#(3 a%' Tra%#.$-a!i$%
N$%'i#1"%-!i$%. >ondis,unction is a !aulty cell division which results in an
embryo with three number )1 chromosomes instead o! two. 9rior to, or at,
conception, a pair o! number )1 chromosomes, in either the sperm or the egg, !ail
to separate. &s the embryo develops, the e/tra chromosome is replicated in every
cell o! the body. (his !aulty cell division is responsible !or 9+ percent o! Down
syndrome cases.
2hy nondis,unction occurs is currently un"nown, although it does seem to
be related to advancing maternal age. =any people are surprised to !ind out that
#* percent o! children born with Down syndrome are born to women under 3+
years o! age. (his is because younger women have higher !ertility rates. It does
not contradict the !act that the incidence o! births o! children with Down syndrome
increases with the age o! the mother.
M$#ai-i#(. =osaicism occurs when nondis,unction o! the )1st
chromosome ta"es place in one o! the initial cell divisions a!ter !ertili'ation. 2hen
this occurs, there is a mi/ture o! two types o! cells, some containing -$
chromosomes and some containing -.. (hose cells with -. chromosomes contain
an e/tra )1st chromosome. 8ecause o! the %mosaic% pattern o! the cells, the term
mosaicism is used. =osaicism is rare, being responsible !or only one to two
percent o! all cases o! Down syndrome.
Tra%#.$-a!i$%. (ranslocation is a di!!erent type o! chromosomal problem
and occurs in only three to !our percent o! people with Down syndrome.
(ranslocation occurs when part o! the number )1 chromosome brea"s o!! during
cell division and attaches to another chromosome. 2hile the total number o!
chromosomes in the cells remains -$, the presence o! an e/tra part o! the number
)1 chromosome causes the !eatures o! Down syndrome.
@nli"e nondis,unction, maternal age is not lin"ed to the ris" o! translocation.
=ost cases are sporadic. 6owever, in about one4third o! cases, one parent is a
carrier o! a translocated chromosome. For this reason, the ris" o! recurrence !or
translocation is higher than that o! nondis,unction.
IV. D. Te I%-i'e%-e a%' Ori*i% $0 H"(a% Tri#$(ie#
1. 2hat is the incidence o! trisomy in humans5
Fre4"e%-& O0
M$#! C$(($%.& O--"rri%* Tri#$(ie#
Liveborn In!ant
(risomies )1, 1#, 13K 7e/ chromosome
7tillborn In!ant 1L)+ (risomies )1, 1#, 13
M (risomies 1$, )), )1, 1+, 1-, )
). 6ow does the e/tra chromosome originate5
(heoretically, errors in chromosome movement A%non4dis,unction%B at
meiosis I or II could lead to the presence o! an e/tra chromosome in either the
sperm or egg. It is, o! course, impratical to directly study non4dis,unction in
human sperm or eggs, since this would re?uire obtaining testicular or ovarian
2hile most trisomic conditions derive !rom maternal meiotic errors, it is
clear that paternal non4dis,unction also contributes signi!icantly. (hus,
depending on the chromosome, appro/imately +4)*D o! cases appear to be
due to an error in the sperm.
3. 2hat Factors 9redispose !or (risomy5
(he association between maternal age and trisomy is a remar"able
one. For women in their early twenties, the li"elihood o! having a clinically
recogni'ed pregnancy involving a trisomic !etus is appro/imately )43D, but !or
women in their mid4!orties this value approaches 3+D.
(he association between age and trisomy is observed !or almost all
human chromosomes and, as the vast ma,ority o! such trisomic !etuses perish
in utero, this means that the primary e!!ect o! age is to increase the !re?uency
o! miscarriages. It is also important to note that the age e!!ect is observed
regardless o! race, socioeconomic status or geographic location, and appears
to be part o! the normal aging process in !emales
(he e!!ect o! age is due to something %going wrong% in the egg itsel!.
6owever, what the abnormal process is and when it occurs are mysteries that
remain to be solved.
>owadays, there are lots o! researches trying to !igure out !urther about the
genetic disorders, and how the result can cure the abnormalities which caused by it.
9indah "e bab I atau II.
1ne o! those abnormalities !eatures is Down 7yndrome. (risomies are the most
common genetic disorder in humans, occurring in at least +D o! all human pregnancies.
(he most common mechanism o! origin o! trisomy is non4dis,unction at maternal meiosis I,
although paternal errors are a signi!icant contributor as well. 9resently, there is little
evidence that race, socioeconomic status, geographic location or e/posure to suspected
etiological agents increases the li"elihood o! trisomyK indeed, the only "nown !actor lin"ed
to trisomy is increasing age o! the woman.
&s we all "now, there are still lots o! children su!!er !rom Down syndrome
nowadays, but we must remember though they are di!!erent !rom us, with all their .9indah
"e bagian teori atau pendahuluan.