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Article

Unique phenotype associated with a pericentric inversion of chromosome 6 in three generations.

American journal of medical genetics - 1 Apr 1991

Wenstrom K D, Muilenburg A C, Patil S R, Hanson J W

Abstract excerpt

We observed a pericentric inversion of chromosome 6 in three generations of one family. Carriers had several phenotypic alterations including congenital cataracts, hearing loss, dental anomalies, ear anomalies, premature graying, unilateral strabismus, coloboma, and mild mental retardation. These manifestations may all be explained by a failure or delay in development of tissues derived from neural crest cells...

Topics

Abnormalities, Multiple
Chromosome Inversion
Chromosomes, Human, Pair 6
Female
Genetic Counseling
Humans
Male
Middle Aged
Pedigree
Phenotype

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Identifiers

PMID: 1867252
DOI: 10.1002/ajmg.1320390122

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1867252-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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