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Medindia » Consumer Health » Health Information » Birth Defect - Genetic - Sex Chromosomal Abnormalities

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Birth Defects - Genetic
Sex Chromosomal Abnormalities

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Human beings have 46 chromosomes of which 44 are autosomes and 2 are sex chromosomes. The two sex chromosomes determine if the baby is going to be a boy or a girl. These sex chromosomes are called X and Y. Females have 2 X chromosomes and males have one X chromosome and one Y chromosome. During fertilization the following takes place.

X (sperm) + X (ovum) = XX (Female)

Y (sperm) + X (ovum) = XY (Male)

There can be some defect in the number of sex chromosomes inherited from the parents, giving rise to sex chromosomal aneuploidy. The incidence of sex chromosomal aneuploidy is 1 in 400 in males and 1 in 650 in females

Sex Chromosomal Abnormalities are conditions that are compatible with survival unlike other chromosomal abnormalities. These disorders too can be detected through prenatal screening as in the case of Down syndrome.Diagnosis can be confirmed by a karyotype using a blood sample.

Name	Incidence	Causes	Clinical features	Treatment
Turner syndrome	1 in 2,500 to 5,000	Presence of only one X chromosome instead of two	Lack of proper sexual development,proportionate short stature, improper ovarian development, broad-webbed neck, broad and shield like chest, structural defects of the heart and kidney, triangle-shaped face, posteriorly turned ears	No Treatment Available
Klinefelter Syndrome	1 in 1,000	Presence of an extra X chromosome in the male	Taller than average, small testis, sterility of the affected male, low I.Q, gynaecomastia, males with the condition are prone for breast cancer.	Removal of excess breast tissue can be carried out.Testosterone therapy is usually given.
Super females	1 in 1,000	Presence of an three X chromosomes in the female than the normal 2	Tall and well built figure, mild mental retardation, the degree of mental retardation and physical abnormality increases with each X chromosome, sterility, and menstrual abnormalities.	Correction of symptoms or abnormalities associated with the condition
47, XYY Karyotype	Normal population: 1 in 1,000 Tihar Jail: 1 in 30	Presence of an extra Y chromosome in the normal male	Low level of I.Q, taller than average, violent behaviour, criminal tendency, behavioral problems such as attention deficit disorder, hyperactivity, aggressiveness.	No treatment

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Birth Defect - Genetic - Down Syndrome

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If you have a question about health related issues, you can now post it in our Ask An Expert section on our community website Medwonders.com and get answers from our panel of experts.

Posted by: honnet Posted on: 03/16/2011

The Content/ remarks were helpful. From http://www.hyderabadonnet.com

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Posted by: CrystalDivine(Guest) Posted on: 06/26/2010

Women can have Hemophilia as well as men. It is very rare but, It is possible.

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Posted by: paschar Posted on: 02/15/2010

We found no mention of the G380R mutation factor in FGFR3 and other related conditions i.e. spinal stenosis, Kartagener`s Syndrome. Paschar

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Related Links

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•	Metabolic Defects
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•	Birth Defects-Introduction

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