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PMID: 7528973 Published · ppublish English Case Reports Journal Article

Male-to-male transmission of mild Brachmann-de Lange syndrome.

American journal of medical genetics ·Vol. 52 ·No. 3 ·1994-09-01 ·Pages 331-3

Chodirker BN, Chudley AE

Abstract

We report on a father and son with mild Brachmann-de Lange syndrome. Previous reports have documented apparent autosomal dominant transmission; however, only one example of male-to-male transmission of possible Brachmann-de Lange syndrome has been reported. This case provides further evidence of the existence of an autosomal dominant form of Brachmann-de Lange syndrome.

MeSH Terms
Adult Child, Preschool De Lange Syndrome/genetics,pathology Developmental Disabilities/genetics Face/abnormalities Genes, Dominant Growth Disorders/genetics Humans Male Phenotype
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Chodirker B N
Department of Child Health, University of Manitoba, Winnipeg, Canada.
Chudley A E
Article Info
Journal
American journal of medical genetics
Abbr.
Am J Med Genet
ISSN
0148-7299
Published
1994-09-01
Pages
331-3
Language
English
Region
United States
NLM ID
7708900
Subset
IM
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