Search

Your search keyword '"Ring Y"' showing total 1 results
Start Over Descriptor "Ring Y" Topic chromosome analysis
1 results on '"Ring Y"'

1. Short Stature and Turner Skeletal Features in an 11-Year-Old Boy with a Ring Y Chromosome Missing the Short Stature Homeobox Containing Gene

Author

Masayuki Tanaka and Yoshikazu Ohmizono

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, endocrine system diseases, Original, Endocrinology, Diabetes and Metabolism, Madelung deformity, Biology, Y chromosome, Short stature, Skeletal phenotype, Endocrinology, Chromosome analysis, Internal medicine, medicine, Gene, Genetics, ring Y, Karyotype, short stature, Turner skeletal features, Pediatrics, Perinatology and Child Health, Homeobox, medicine.symptom, Haploinsufficiency, SHOX
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.

Published
2005
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results