Autosomal dominant inheritance of Brachmann-de Lange syndrome

Journal Article · Mon Dec 30 00:00:00 EST 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19961230)66:4<445::AID-AJMG12>3.3.CO;2-S· OSTI ID:478538

Kozma, C ^[1]

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1. Georgetown Univ. Medical Center, Washington, DC (United States)

A mother with mild phenotype and her severely affected son, both with classic manifestations of Brachmann-de Lange syndrome (BDLS), are described. This documented mother-to-child transmission supports the hypothesis of autosomal dominant transmission with intrafamilial variability. Known cases of BDLS with autosomal dominant inheritance are reviewed. Although most cases of BDLS are sporadic, a careful evaluation of parents of affected children is important for appropriate genetic counseling. 15 refs., 3 figs., 1 tab.

• OSTI ID: 478538
• Journal Information: American Journal of Medical Genetics, Vol. 66, Issue 4; Other Information: PBD: 30 Dec 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HEREDITARY DISEASES
GENETICS
DIAGNOSIS
PATIENTS
PHENOTYPE
CONGENITAL MALFORMATIONS
MENTAL DISORDERS
DOMINANT MUTATIONS