Deletion of the short arm of chromosome 3: a case report with necropsy findings

A male infant with partial deletion of the short arm of chromosome 3 is described. The features this patient shares with six previously reported cases include microcephaly, dolichocephaly, micrognathia, epicanthic folds, ptosis, low set or malformed ears, postaxial polydactyly, and growth or mental...

Full description

Saved in:
Bibliographic Details
Published in:Journal of medical genetics 1984-08, Vol.21 (4), p.307-310
Main Authors: Beneck, D, Suhrland, M J, Dicker, R, Greco, M A, Wolman, S R
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Biological and medical sciences
Chromosome aberrations
Chromosome Deletion
Chromosomes, Human, 1-3
Humans
Infant, Newborn
Karyotyping
Kidney - pathology
Male
Medical genetics
Medical sciences
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:A male infant with partial deletion of the short arm of chromosome 3 is described. The features this patient shares with six previously reported cases include microcephaly, dolichocephaly, micrognathia, epicanthic folds, ptosis, low set or malformed ears, postaxial polydactyly, and growth or mental retardation or both. In addition, visceral anomalies not previously reported in association with this chromosomal abnormality are described. These characteristics may constitute a recognisable clinical syndrome.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.21.4.307