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Article

Monosomy 1p36: Report of a cohort of 13 Asian Indian patients.

American journal of medical genetics. Part A - 1 Apr 2022

Gupta Neerja, Kaur Ravneet, Phadke Shubha, Sharma Pankaj, Nampoothiri Sheela, Saxena Deepti, Kabra Madhulika

Abstract excerpt

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...

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Identifiers

PMID: 34989134
DOI: 10.1002/ajmg.a.62630

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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