An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance
V McConnell1, T Brown, P J Morrison
1Department of Medical Genetics, Belfast City Hospital Trust, Belfast, UK.
Clinical Dysmorphology
|October 18, 2003
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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