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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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
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author Tanaka, Masayuki
Ohmizono, Yoshikazu
author_facet Tanaka, Masayuki
Ohmizono, Yoshikazu
author_sort Tanaka, Masayuki
collection PubMed
description 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.
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spelling pubmed-40048332014-04-30 Short Stature and Turner Skeletal Features in an 11-Year-Old Boy with a Ring Y Chromosome Missing the Short Stature Homeobox Containing Gene Tanaka, Masayuki Ohmizono, Yoshikazu Clin Pediatr Endocrinol Original 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. The Japanese Society for Pediatric Endocrinology 2005-08-12 2005 /pmc/articles/PMC4004833/ /pubmed/24790310 http://dx.doi.org/10.1297/cpe.14.45 Text en 2005©The Japanese Society for Pediatric Endocrinology http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License.
spellingShingle Original
Tanaka, Masayuki
Ohmizono, Yoshikazu
Short Stature and Turner Skeletal Features in an 11-Year-Old Boy with a Ring Y Chromosome Missing the Short Stature Homeobox Containing Gene
title Short Stature and Turner Skeletal Features in an 11-Year-Old Boy with a Ring Y Chromosome Missing the Short Stature Homeobox Containing Gene
title_full Short Stature and Turner Skeletal Features in an 11-Year-Old Boy with a Ring Y Chromosome Missing the Short Stature Homeobox Containing Gene
title_fullStr Short Stature and Turner Skeletal Features in an 11-Year-Old Boy with a Ring Y Chromosome Missing the Short Stature Homeobox Containing Gene
title_full_unstemmed Short Stature and Turner Skeletal Features in an 11-Year-Old Boy with a Ring Y Chromosome Missing the Short Stature Homeobox Containing Gene
title_short Short Stature and Turner Skeletal Features in an 11-Year-Old Boy with a Ring Y Chromosome Missing the Short Stature Homeobox Containing Gene
title_sort short stature and turner skeletal features in an 11-year-old boy with a ring y chromosome missing the short stature homeobox containing gene
topic Original
url 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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