Short stature and turner skeletal features in an 11-year-old boy with a ring y chromosome missing the short stature homeobox containing gene.

Authors :: Tanaka M
Ohmizono Y
Source :: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology [Clin Pediatr Endocrinol] 2005; Vol. 14 (2), pp. 45-7. Date of Electronic Publication: 2005 Aug 12.
Publication Year :: 2005
Abstract: 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.

Language :: English
ISSN :: 0918-5739
Volume :: 14
Issue :: 2
Database :: MEDLINE
Journal :: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
Publication Type :: Academic Journal
Accession number :: 24790310
Full Text :: https://doi.org/10.1297/cpe.14.45

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