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Monosomy 1p36: Report of a cohort of 13 Asian Indian patients.
Gupta, Neerja; Kaur, Ravneet; Phadke, Shubha; Sharma, Pankaj; Nampoothiri, Sheela; Saxena, Deepti; Kabra, Madhulika.
Afiliação
  • Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Kaur R; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Phadke S; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
  • Sharma P; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, Kerala, India.
  • Saxena D; Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
  • Kabra M; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deleção Cromossômica / Monossomia Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deleção Cromossômica / Monossomia Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article