Noonan's Syndrome-1: Is from a mutation in a gene ;#40;ptpn11;#41; on the long arm of chromosome 12. Each child of a person with ns-1 has a 50% chance of having it. Features include wide-set ; down-slanting eyes, a broad forehead ; a webbed neck. Congenital heart disease ;#40;in 90%;#41;, spine deformities ; intellectual disability are seen. Other gene mutations with features similar to ns-1 can be detected on chromosomal microarray.
Answered 5/1/2014
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A doctor has provided 1 answer
A doctor has provided 1 answer
A doctor has provided 1 answer
A doctor has provided 1 answer
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