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Article

A case of duplication of 13q32-->qter and deletion of 18p11.32-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited.

Journal of medical genetics - 1 Jul 1996

Helali N, Iafolla A K, Kahler S G, Qumsiyeh M B

Abstract excerpt

A mild clinical phenotype is described in a patient with duplication of 13q32-->qter and a small deletion of 18p11.32-->pter. The 8 year old white male presented with psychomotor retardation, tethered cord, soft, fleshy ears, and normal facial features except for thin lips. The karyotype was foun...

Topics

Child
Chromosome Aberrations
Chromosome Banding
Chromosome Disorders
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 18
Cytogenetics
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Multigene Family

Phenotype

Sequence Deletion

Source

Open in PubMed Open full text

Identifiers

PMID: 8818949
DOI: 10.1136/jmg.33.7.600
PMCID: PMC1050671

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8818949-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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A case of duplication of 13q32-->qter and deletion of 18p11.32-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited.PMID 8818949Read ↗

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