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Article

Mosaic partial trisomy 17q2.

Journal of medical genetics - 1 Sept 1991

King P A, Ghosh A, Tang M

Abstract excerpt

Examination of an infant born after prenatal diagnosis of mosaic partial trisomy 17q2 showed the unique phenotypic features of this chromosomal abnormality, that is, frontal bossing, large mouth, brachyrhizomelia, and hexadactyly. Amniocentesis was performed because of polyhydramnios and ultrasound diagnosis of fetal craniofacial dysmorphology and rhizomelic shortening of the limbs. Chromosomal mosaicism was...

Topics

Abnormalities, Multiple
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 17
Face
Female
Foot Deformities, Congenital
Humans
Limb Deformities, Congenital
Mosaicism
Phenotype
Polyhydramnios

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Toes

Trisomy

Source

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Identifiers

PMID: 1956067
DOI: 10.1136/jmg.28.9.641
PMCID: PMC1015800

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1956067-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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