Short Stature and Turner Skeletal Features in an 11-Year-Old Boy with a Ring Y Chromosome Missing the Short Stature Homeobox Containing Gene
نویسندگان
چکیده
We report on an 11-yr-old boy with short stature and Turner skeletal features. Chromosome analysis revealed a 46,X,r(Y)(p11.3q11.2) karyotype, and FISH analysis showed loss of the Short stature homeobox containing gene (SHOX) from the ring Y chromosome. The results are consistent with the association of SHOX haploinsufficiency with short stature and Turner skeletal features, and suggest the importance of SHOX analysis in boys with Turner-like skeletal phenotype.
منابع مشابه
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