Genetic Disorder Mystery is Solved

United Press International
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Oxford (UK):
Scientists have partially untangled genetic details of a mysterious disorder that caused seizures and death in infant Missouri boys within a month of birth.
The international team of researchers discovered a rare change in the DNA of two eastern Missouri families with a history of a condition called X-linked recessive idiopathic hypoparathyroidism:
A portion of the X chromosome, a human sex chromosome, had been replaced by a copy of a much larger section of genetic material from chromosome 2.
Alterations of such large regions of genetic code that stably pass from one generation to the next are generally rare and have never before been observed in the human X chromosome.
The study was led by scientists at Oxford University in England and included researchers from Washington University School of Medicine and Shriners Hospital for Children in St. Louis.
The findings appear in the October issue of The Journal of Clinical Investigation.
Oct 19, 2005