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Article

Phenotypic heterogeneity and parental origin of extra chromosome 21 in Down syndrome.

Indian pediatrics - 1 May 2010

Muranjan Mamta, Chaudhari Tejasvi, Vundinti Babu Rao

Abstract excerpt

We compared the frequency of phenotypic features of 40 children with Down syndrome between individuals with a maternally or paternally derived extra chromosome 21, using quantitative FISH for comparing heteromorphisms of the nucleolar organizing region. Parental origin was determined in 90% of families. Hypotonia and craniofacial abnormalities were present in 90% or more individuals, irrespective of parental...

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PMID: 19671944
DOI: 10.1007/s13312-010-0078-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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