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

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 associatio...

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Detalles Bibliográficos
Autores principales: Tanaka, Masayuki, Ohmizono, Yoshikazu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2005
Materias:
Original
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004833/
https://www.ncbi.nlm.nih.gov/pubmed/24790310
http://dx.doi.org/10.1297/cpe.14.45

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004833/
https://www.ncbi.nlm.nih.gov/pubmed/24790310
http://dx.doi.org/10.1297/cpe.14.45

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