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The Role of SHOX Gene in Short Stature of Turner Syndrome and Its Variant

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SHOX gene is located on the edge of each short/p arm sex chromosome called the pseudoautosomal region-1 (PARI) plays as a dindomental role on controling chondrocyte differentation and apoptosis in the growth plate. Longitudinal growth is determined by environmental, hormonal and genetic factors. Short stature is defiened as a stature is defined as a standing height below the third percentile according to Tunner et al. Short stature affects approximately 2% of Children. Tuner syndrome is the most common genetic disorder in female characterized by the absence od all or post of a normal second X chromasome, effecting 1:2500 live-born female babies Short stature and avarian failure is the main clinical feature. The objective of this study is to elucidate the implication of SHOX gene in dhort of Turner Syndrome and its variant. Puposive sampling was performed to recruit female with short stature after informed consent ogreement. Female with growth teratement history and chronic diseases was exluded from this study. Cytogenetics testting was done for all sample by G-banding method, in routine karyotyping. We report 9 female with short stature which cytogenetically and clinically diagnosed as Turner Syndrome Four cases is classic Turner syndromr with standing height is below third percentile, there cases are 45,X/46,X, i(Xq) with standing height is below third percentile, one case is 46,XX45,X (80%) with standing height is below third percentile, and the rest is 46,XX/45,X(20%) with. SHOX gene haplonsufficiency is strongly indicated the cause of shoet stature in Turner Syndrome

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Series Title

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Call Number

Media Medika Indonesiana;44(2)2010:57-61

Publisher

Yogyakarta : FK. Universitas Gajahmada., 2010

Collation

4p.

Language

English

ISBN/ISSN

0126-1762

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Media Type

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Edition

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Subject(s)

GENES
TURNER SYNDROME

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