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Article

Clinical and molecular analyses of deletion 3p25-pter syndrome.

American journal of medical genetics - 1 Jul 1993

Mowrey P N, Chorney M J, Venditti C P, Latif F, Modi W S, Lerman M I, Zbar B, Robins D B, Rogan P K, Ladda R L

Abstract excerpt

Hemizygous deletion of 3p25-pter is associated with a phenotype of profound growth failure, microcephaly, characteristic facial changes, and mental retardation. Since the severity may be quite variable, we have studied 3 cases of del 3p25-pter to define the clinical manifestations and the critical chromosome region for phenotypic expression. The patient we now report died at age 6 months and provided an...

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Topics

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Share to Abnormalities, Multiple
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to In Situ Hybridization, Fluorescence

Share to Infant, Newborn

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Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 8103286
DOI: 10.1002/ajmg.1320460604

Genes

RAF1

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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