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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 no: | BMC Med Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2015
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| Assuntos: | |
| Acesso em linha: | 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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