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Article

[Partial trisomy of the short arm of chromosome 3. Case report and phenotype expression].

Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde - 1 Dec 1991

Frankova Y E, Holenova H, Braulke I

Abstract excerpt

A female infant with partial trisomy 3p, facial dysmorphism, cleft palate and severe psychomotor retardation is described. Cytogenetic evaluation revealed a paternal balanced translocation which could also be detected in three relatives of the father. The observed clinical features of the patient are discussed by comparison with 47 previously reported cases.

Topics

Abnormalities, Multiple
Adult
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 3
Cleft Palate
Female
Humans
Infant
Intellectual Disability
Karyotyping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Pedigree

Phenotype

Translocation, Genetic

Trisomy

Source

Identifiers

PMID: 1770961

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1770961-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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