m Disruption of the cell cycle

‡ Autosom Chromosome
‡ Sex Chromosome
m rror during meiotic division can change:
1. The number of chromosomes per cell
Meiotic nondisjunction can occur if homologous failed
separated during anaphase M-1 and chromatids fail to
separate during the M-2 which in turn has a
chromosome number of gametes abnornal.
There are two problems the number of chromosomes:
1. Aneuploid
* Trisomik (2n +1)
* Monosomik (2n-1)
2. Polyployds
* Triploid (3n)
* Tetraploid (4n)
2. Structure of each chromosome
Changes in chromosome structure can
cause the occurrence of four kinds
of structures, namely:
* Deletion
* Duplication
* Inversion
* Translocation
m Things that can interfere with meiosis I
and II
‡ Influence of food
‡ nvironmental influence
‡ Influence of drugs
Autosomal abnormalities related amounts

m Trisomy 21 (Down Syndrome)

Translocation of chromosomes 13 & 14/15.
The result is growth retardation, congenital
heart defects, craniofacial abnormalities,
upward slanting eyes and mental
backwardness.

m Trisomy 18 (Down Syndrome)

Cleft, the back of the head protruding, small
jaw, low ear position, one or a few hours in a
flexed position, sindaktili, renal anomaly, and
usually dies at the age of two months.
m Trisomy 13
Often Called Patau Syndrome. This
disease associated with the genetic
material on chromosome 13. This syndrome
occurs 1 in 10 000 births. Characterized
Patients Could not survive after birth.
The backwardness of the soul, Congenital
heart defects, cleft lip, palatoschiziz, eye
defects (microophtalmia, anophtalmia),
and Coloboma.
ãelated sex chromosomes :

m Klinefelter's Syndrome, with karyotype 47, XXY

(or other variants, such as XXXY) is the major
abnormality of sexual differentiation of the
most frequently found with a frequency of 500
men. patients characterized by infertility,
gynecomastia, varying degrees of disruption of
sexual maturation, and in some cases
androgenisasi below normal. The most frequent
causes are homologous XX nondisjunction.

m Turner syndrome, patients have a karyotype 45,

X and discrete bodies of short, high arched
palate, winged collar, chest like a shield, heart
and kidney anomaly, and inverted nipples.
m Angelman Syndrome
AS is a classic example of genetic imprinting in
that it is usually caused by deletion or
inactivation of genes on the maternally
inherited chromosome 15 while the paternal
copy, which may be of normal sequence, is
imprinted and therefore silenced. The sister
syndrome, Prader-Willi syndrome, is caused by
a similar loss of paternally-inherited genes and
maternal imprinting. An older, alternative term
for AS, |





, is generally
considered pejorative and stigmatizing so it is
no longer the accepted term, though it is
sometimes still used as an informal term of
diagnosis. People with AS are sometimes
known as "angels", both because of the
syndrome's name and because of their
youthful, happy appearance.
Other syndromes caused by genetic
abnormalities:

m Turner X1: patients can be characterized

by short stature, overweight, do not
experience menstruation resulting
barren.

m Trisomy 16: a chromosomal abnormality

that is there are three chromosomes 16.
Not until the birth was dead inside the
womb. This can lead to miscarriage
during the first trimester of birth.
m Trisomy 18th: also called dward's syndrome
was discovered by John dward 1960 was a
genetic disease caused by excess
chromosomal 18th. ability to survive this
disease is very small. Usually the baby will
be born but died shortly afterwards. 50% live
to age 2 months, 50-10% of living up to one
year. Babies who are born with dward's
syndrome accompanied by several
characteristics such as kidney defects, liver
damage and respiratory difficulties.