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pseudoautosomal

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pseudoautosomal [¦süd·ō‚ȯd·ō′sō·məl]
(genetics)
Pertaining to segments of the X and Y chromosomes that undergo obligatory crossing-over so that they show on autosomal pattern of inheritance instead of the typical x- or y-linked pattern.


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Advances in the field of genetics have estimated that about 2% of idiopathic short stature is related to haploinsufficiency of the short stature homeobox (SHOX) gene, which is found on the short arm of the X and Y chromosomes in the pseudoautosomal region.
This product is a 32-kd transmembrane protein whose function is not well established; it is encoded by the MIC2 gene located in the pseudoautosomal region of X and Y chromosomes.
In 1998, Belin et al (1) discovered that Leri-Weill dyschondrosteosis was due to a haploinsufficiency of the short-stature homeobox-containing (SHOX) gene, which is located on the pseudoautosomal region of the short arm of both sex chromosomes.
 
 
 
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