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Article

Partial trisomy 1(q42-->qter): a new case with a mild phenotype.

Journal of medical genetics - 1 Jan 1998

Concolino D, Cinti R, Ferraro L, Moricca M T, Strisciuglio P

Abstract excerpt

We report a female patient with a 46,XX,der(8)t(1;8)(q42.1;p23.3) karyotype who had a mild phenotype characterised by a few subtle dysmorphic features and mild developmental retardation, probably resulting from trisomy 1q42-->qter. The deletion on the short arm of the chromosome 8 appeared to be confined to the distal chromosomal segment.

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Share to Chromosomes, Human, Pair 1
Share to In Situ Hybridization, Fluorescence
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 9475102
DOI: 10.1136/jmg.35.1.75
PMCID: PMC1051194

Provenance

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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Partial trisomy 1(q42-->qter): a new case with a mild phenotype.PMID 9475102Read ↗

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