Rabu, 02 April 2014

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7 Syndrome Disorder In Human System

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The Following are some of Disorder


Turner Syndrome (46, XO)
Turner syndrome occurs when ovum is fertilized by sperm that has no sex chromosome (caused by non-disjunction event in cell division). Or, when sperm fertilizes ovum that has no sex chromosomes (caused by non-disjunction event in cell division).

Turner syndrome sufferers are usually females who have 45 chromosomes consisting of. 44 somatic chromosomes (autosome) and I sex chromosome. Persons suffering from Turner syndrome are usually infertile and in general have no ovary nor oogenesis, small uterus, poor breast development, short stature (dwarfism) low-set ears, and intelligence that is below normal. The case was first introduced by H H turner (1938) in the united state

Klinefelter Syndrome (47, XXY)
Klinefelter syndrome occurs when an ovum having double sex chromosome (XX, caused by nondisjunction of the sex chromosome) is fertilized by sperm with Y sex chromosome. Or, when a normal ovum is fertilized by sperm that has XY chromosome. Therefore, the affected individuals are male with 47 chromosomes (44 autosomes and 3 sex chromosomes).

Klinefelter sufferers are usually sterile because the testes and the prostate gland have small size and have broken sperm duct, undergo breast enlargement (due to the fat tissue accumulation), have long and thin body parts, have normal or small size penis, have woman-like voice, narrow cliest, and wide hips. These characteristics appear when they are grown up. The syndrom was flrst discovered by H. E. Klinefelter (1942).

Jacobs Syndrome ( 47, XYY)
Jacobs syndrome occurs when an ovum is fertilized by a sperm having YY chromosome (because it fails to separate in the sex chromosome). The fertilization results an offspring with 47 chromosomes (consisting of 44 autosome and 3 sex chromosoms, that is XYY).

The characteristics of the Jacobs syndrome sufferers are aggressive, antisocial, having tall body, having frightening look, and having below normal IQ, about 80- 95. The syndrom was first introduced by P. A. Jacobs (1965).

Super Female Syndrome (47, XXX)
super female syndrom occurs when an ovum is fertilized by a sperm having XX chromosome. Or, an ovum having XX chromosome is fertilized by a sperm having X chromosome. The fertilization results in individual with 47 chromosomes (44 autosomes and 3 sex chromosomes, XXX). Persons suffering from this syndrome are usually infertile and have very low rate of survival, resulting from too many organ disorders.

Down Syndrome (47, XX or XY)
Down syndrome is trisomy condition in autosome 2 I (nondisjunction). The syndrome occurs in autosome, so that it can affect both male and female. The syndrome was first discovered by J.L Down (1866).



A girl suffering from down syndrome who can still be cheerful Persons suffering from Down syndrome are often identiffed as a mongolism (looks like a Mongolian beeause of the fold on the upper eye lid). They tend to be shorter than average, rounded face, epichantic fold of the eyelid, an almond-shaped of eyes, spot on the iris, protruding tongue , thick tips (hanging down lower lip), wide and flat nose' small ears that may fold over a little at the top, a single palmar fold, short and fat fingers, a larger than normal space between the big and second toes.They usually also have heart defect and lower than average IQ (about 20 to 50).

Edwards Sindrome (47, XX or XY)
Edwards syndrome occurs because of trysomy in autosome number 18 so that the individuals having this syndrome have 47 chromosomes (45 autosomes and 2 sex chromosomes), Some characteristics of Edwards syndrome are oval-shaped skull, large clitoris, short and wide chest, epicanthal fold, and dermatoglyphs.

Patau Sindrome (47, XX or XY)
Patau syndrome occurs because of trisomy in autosome 13. Persons having Patau's syndrome have 47 chromosomes with 46 chromosomes and 2 sex chromosomes. The characteristics of Patau's syndrome are having gmall head, small eyes, low-set ears, cleft palate, deaf and polydactyl.

In addition, they have heart disorder, kidney disorder, large spleen, and lower than average IQ. They usually only live for couples of hours or days after they are born.

source: Essential Biology, 2006

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