Chromosome

This category comprises disorders of chromosomes that develop from defects before or during conception.

Turner’s Syndrome 

What Is Turner Syndrome? Turner syndrome is a sex chromosome abnormality in females characterized by failure of the ovaries to respond to pituitary hormone stimulation as a consequence of having complete or partial absence of the two sex (X) chromosomes. ...

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Cystic Fibrosis 

What Is Cystic Fibrosis? Cystic fibrosis is a genetic disease of the exocrine glands which causes the body to produce abnormally thick and sticky mucus and results in progressive damage to the respiratory system and digestive problems. Severity of disease depends ...

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Down Syndrome

What Is Down Syndrome? Down Syndrome is a congenital disorder (present at birth) characterized by consequence of having an extra chromosome 21 or 22.  Down syndrome is typically caused by what is called nondisjunction. Q: What is nondisjunction? A: Nondisjunction ...

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