6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment.
Pediatr Int
; 55(3): 376-81, 2013 Jun.
Article
em En
| MEDLINE
| ID: mdl-23782370
ABSTRACT
Submicroscopic deletion of the 6p subtelomere has recently been recognized as a clinically identifiable syndrome. A distinct phenotype has emerged consisting of developmental delay/mental retardation, language impairment, hearing loss, and ophthalmologic, cardiac, and craniofacial abnormalities, including hypertelorism, midface hypoplasia, small nose, and high arched palate. We describe here a patient with 6p subtelomere deletion associated with congenital glaucoma, severe mental retardation, and growth impairment. Fluorescent in situ hybridization analysis revealed only one 6p25.3 signal. Array comparative genomic hybridization assay showed 2.1 Mb deletion and 4.14 Mb duplication in the 6p25 region. Generally, developmental delay and language impairment are common findings in patients with 6p subtelomere deletion syndrome, but growth impairment is not. Compared to that, the present patient showed atypically severe developmental delay and growth impairment.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Anormalidades Múltiplas
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Deficiências do Desenvolvimento
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Glaucoma
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Deleção Cromossômica
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Telômero
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Anormalidades Craniofaciais
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Nanismo
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Transtornos do Desenvolvimento da Linguagem
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Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
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Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article