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Article

Maternal uniparental isodisomy 11q13qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13qter.

Journal of medical genetics - 1 Dec 2001

Kotzot D, Röthlisberger B, Riegel M, Schinzel A

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 11768394
DOI: 10.1136/jmg.38.12.876
PMCID: PMC1734778

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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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Maternal uniparental isodisomy 11q13qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13qter.PMID 11768394Read ↗

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Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism.Semantic proximity Read ↗

'Pure' partial trisomy 11q (11q23.1→11qter): expanding the phenotype.Semantic proximity Read ↗

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