Brachmann-de Lange syndrome: autosomal dominant inheritance and male-to-male transmission

Autor:	R R, McKenney, F F, Elder, J, Garcia, H, Northrup
Rok vydání:	1996
Předmět:	Adult Male Fatal Outcome Phenotype Child Preschool De Lange Syndrome Karyotyping Infant Newborn Humans Female Failure to Thrive Genes Dominant
Zdroj:	American journal of medical genetics. 66(4)
ISSN:	0148-7299
Popis:	We report on familial occurrence of the Brachmann-de Lange syndrome (BDLS): a mildly affected father and his severely affected son and daughter who have different mothers. Both children are severely affected while the father has a much milder but definite BDLS phenotype. Our report documents the third example of male-to-male transmission and adds to the argument against exclusively maternal transmission in familial cases. In addition, our findings illustrate the occurrence of severe manifestations in cases of familial BDLS.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::0e15686360bd196b4890e962be03ceb9 https://pubmed.ncbi.nlm.nih.gov/8989466 Zobrazit plný text záznamu Plný text