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Article

Partial duplication of 4q12q13 leads to a mild phenotype.

American journal of medical genetics - 3 Sept 1999

Shashi V, Berry M N, Santos C, Pettenati M J

Abstract excerpt

We report on the second case of duplication (4)(q12q13) with microcephaly, mental retardation, and minor facial anomalies. Duplications involving the distal region of chromosome 4q are well described and share common clinical findings. However, phenotypic abnormalities of duplications of the prox...

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Share to Chromosome Aberrations
Share to Chromosome Disorders
Share to Chromosomes, Human, Pair 4

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10440828

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-10440828-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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Partial duplication of 4q12q13 leads to a mild phenotype.PMID 10440828Read ↗

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Further contribution to the description of phenotypes associated with partial 4q duplication.Semantic proximity Read ↗

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