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...

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Bibliographic Details
Published inJournal of medical genetics Vol. 21; no. 4; pp. 307 - 310
Main Authors Beneck, D, Suhrland, M J, Dicker, R, Greco, M A, Wolman, S R
Format Journal Article
LanguageEnglish
Published London BMJ Publishing Group Ltd 01.08.1984
BMJ
BMJ Publishing Group LTD
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
Chromosomal aberration
Human
Complex malformation
Partial deletion
Abnormal chromosome
Abnormal A3 chromosome
Mental retardation
Growth retardation
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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.
Bibliography:ark:/67375/NVC-NGFNCGLB-S
istex:E384817158CFC5EEC16C769A709ECCA17B81BD87
PMID:6492097
href:jmedgenet-21-307.pdf
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ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
ObjectType-Article-3
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.21.4.307