A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency

BACKGROUND: Deletions of the long arm of chromosome X in males are a rare cause of X-linked intellectual disability. Here we describe a patient with an interstitial deletion of the Xq21.1 chromosome. CASE PRESENTATION: In a 15 year boy, showing intellectual disability, short stature, hearing loss an...

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Publicado en:BMC Med Genet
Main Authors: Giordano, M., Gertosio, C., Pagani, S., Meazza, C., Fusco, I., Bozzola, E., Bozzola, M.
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2015
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4593198/
https://ncbi.nlm.nih.gov/pubmed/26323392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0220-z
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