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Article

Partial trisomy for short arm of chromosome 5.

Acta paediatrica Japonica : Overseas edition - 1 Aug 1993

Yasutomo K, Suzue T, Nishioka A, Kozan H, Sekiguchi T, Ohara K, Okamoto T, Iwai T, Endo S

Abstract excerpt

We present two unrelated cases of partial trisomy for the short arm of chromosome 5, the first such cases reported in Japan. The features are characterized by hypertelorism, low set ears, arachnodactyly, laryngostenosis, hypotonia and some cerebral malformation. The characteristic facial expressi...

Topics

Abnormalities, Multiple
Brain
Chromosome Banding
Chromosomes, Human, Pair 5
Ear, External
Female
Humans
Hypertelorism
Infant, Newborn
Karyotyping
Laryngostenosis
Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Marfan Syndrome

Muscle Hypotonia

Phenotype

Trisomy

Source

Identifiers

PMID: 8379327
DOI: 10.1111/j.1442-200x.1993.tb03065.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8379327-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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