2003
DOI: 10.1590/s0004-27302003000600010 View full text |Buy / Rent full text
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Abstract: Clinical and Genetic Studies in Girls With Idiopathic Short Stature.Ten girls with idiopathic short stature (ISS) were clinically reviewed and cytogenetic analysis performed by GTG-banding. Two abnormal karyotypes were identified: mos 45,X/46,XX and mos 45,X/46,X, der(Xp)/46,X,r(X). In the latter, FISH analysis and microsatellite investigation, including intragenic SHOX CA repeat, confirmed the origin of the abnormal structural chromosomes and revealed haploinsufficiency for the SHOX gene. In the remaining 8 p… Show more

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