Monosomy 1p36: Report of a cohort of 13 Asian Indian patients.
Am J Med Genet A
; 188(4): 1317-1322, 2022 04.
Article
em En
| MEDLINE
| ID: mdl-34989134
ABSTRACT
Monosomy 1p36 is one of the common microdeletion syndromes with a recognizable facial phenotype. Failure to thrive, developmental delay, congenital heart disease, and other abnormalities are common in these patients. This is the first study on Asian Indian patients with monosomy 1p36, documenting the phenotypic characteristics of 13 patients, indicating phenotypic similarities in a diverse population and broadening the clinical spectrum.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Deleção Cromossômica
/
Monossomia
Tipo de estudo:
Etiology_studies
/
Incidence_studies
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Observational_studies
/
Risk_factors_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article