An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance

V. McConnell; T. Brown; Patrick Morrison

doi:10.1097/01.mcd.0000086852.79917.e3

An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance

V. McConnell, T. Brown, Patrick Morrison

School of Medicine, Dentistry and Biomedical Sciences

Research output: Contribution to journal › Article

6 Citations (Scopus)

Abstract

The existence of familial de Lange syndrome has been documented in sibs and in parent-child families, but the inheritance pattern continues to be the cause of much debate. We describe a classically affected neonate with de Lange syndrome, an affected mother and probably affected maternal grandmother. These cases show evidence for a dominantly inherited syndrome with a de Lange phenotype.

Original language	English
Pages (from-to)	241-244
Number of pages	4
Journal	CLINICAL DYSMORPHOLOGY
Volume	12
Issue number	4
DOIs	https://doi.org/10.1097/01.mcd.0000086852.79917.e3
Publication status	Published - Oct 2003

ASJC Scopus subject areas

Anatomy
Genetics(clinical)
Pediatrics, Perinatology, and Child Health

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title = "An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance",

abstract = "The existence of familial de Lange syndrome has been documented in sibs and in parent-child families, but the inheritance pattern continues to be the cause of much debate. We describe a classically affected neonate with de Lange syndrome, an affected mother and probably affected maternal grandmother. These cases show evidence for a dominantly inherited syndrome with a de Lange phenotype.",

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AB - The existence of familial de Lange syndrome has been documented in sibs and in parent-child families, but the inheritance pattern continues to be the cause of much debate. We describe a classically affected neonate with de Lange syndrome, an affected mother and probably affected maternal grandmother. These cases show evidence for a dominantly inherited syndrome with a de Lange phenotype.

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DO - 10.1097/01.mcd.0000086852.79917.e3

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