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Disruption of the cell cycle

Autosom Chromosome

Sex Chromosome

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Error during meiotic division can change:

1. The number of chromosomes per cell

Meiotic nondisjunction can occur if homologous failedseparated during anaphase M-1 and chromatids fail toseparate during the M-2 which in turn has achromosome 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)

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2. Structure of each chromosome

Changes in chromosome structure can

cause the occurrence of four kindsof structures, namely:

* Deletion

* Duplication

* Inversion* Translocation

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Things that can interfere with meiosis I

and II

Influence of food Environmental influence

Influence of drugs

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Autosomal abnormalities related amounts

Trisomy 21 (Down Syndrome)Translocation of chromosomes 13 & 14/15.The result is growth retardation, congenitalheart defects, craniofacial abnormalities,upward slanting eyes and mental

backwardness.

Trisomy 18 (Down Syndrome)Cleft, the back of the head protruding, small

jaw, low ear position, one or a few hours in aflexed position, sindaktili, renal anomaly, andusually dies at the age of two months.

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Trisomy 13

Often Called Patau Syndrome. Thisdisease associated with the geneticmaterial on chromosome 13. This syndromeoccurs 1 in 10 000 births. Characterized

Patients Could not survive after birth. The backwardness of the soul, Congenitalheart defects, cleft lip, palatoschiziz, eyedefects (microophtalmia, anophtalmia),

and Coloboma.

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Related sex chromosomes :

Klinefelter's Syndrome, with karyotype 47, XXY(or other variants, such as XXXY) is the majorabnormality of sexual differentiation of themost frequently found with a frequency of 500men. patients characterized by infertility,

gynecomastia, varying degrees of disruption ofsexual maturation, and in some casesandrogenisasi below normal. The most frequentcauses are homologous XX nondisjunction.

Turner syndrome, patients have a karyotype 45,X and discrete bodies of short, high archedpalate, winged collar, chest like a shield, heartand kidney anomaly, and inverted nipples.

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Angelman SyndromeAS is a classic example of genetic imprinting in

that it is usually caused by deletion orinactivation of genes on the maternallyinherited chromosome 15 while the paternalcopy, which may be of normal sequence, isimprinted and therefore silenced. The sistersyndrome, Prader-Willi syndrome, is caused bya similar loss of paternally-inherited genes andmaternal imprinting. An older, alternative termfor AS, happy puppet syndrome, is generallyconsidered pejorative and stigmatizing so it isno longer the accepted term, though it is

sometimes still used as an informal term ofdiagnosis. People with AS are sometimesknown as "angels", both because of thesyndrome's name and because of theiryouthful, happy appearance.

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Other syndromes caused by geneticabnormalities:

Turner X1: patients can be characterizedby short stature, overweight, do not

experience menstruation resultingbarren.

Trisomy 16: a chromosomal abnormality

that is there are three chromosomes 16.Not until the birth was dead inside thewomb. This can lead to miscarriageduring the first trimester of birth.

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Trisomy 18th: also called Edward's syndromewas discovered by John Edward 1960 was agenetic disease caused by excesschromosomal 18th. ability to survive thisdisease is very small. Usually the baby willbe born but died shortly afterwards. 50% liveto age 2 months, 50-10% of living up to one

year. Babies who are born with Edward'ssyndrome accompanied by severalcharacteristics such as kidney defects, liverdamage and respiratory difficulties.

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