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Article

Phenotypic variability of a 4q34-->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother.

European journal of medical genetics - 1 Jan 2000

Bendavid Claude, Pasquier Laurent, Watrin Tanguy, Morcel Karine, Lucas Josette, Gicquel Isabelle, Dubourg Christèle, Henry Catherine, David Véronique, Odent Sylvie, Levêque Jean, Pellerin Isabelle, Guerrier Daniel

Abstract excerpt

Terminal deletions of the long arm of chromosome 4 are associated with a recognizable phenotype consisting of dysmorphic facial features, cleft palate, upper and lower limb malformations, cardiac defects and growth and mental retardation. Here we report on two female patients, a mother and her daughter, carrying the same 4q34-->qter deletion but presenting with a different phenotype. The mother's presentation is...

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Identifiers

PMID: 17081814
DOI: 10.1016/j.ejmg.2006.09.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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