Premium
On the variable expression of the Brachmann‐de Lange syndrome
Author(s) -
OieSmulders Christina,
Theunissen Pierre,
SchranderStumpel Connie,
Frljns Jean Pierre
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03628.x
Subject(s) - variable expression , genetics , biology , medicine , gene
de Die‐Smulders C, Theunissen P, Schrander‐Stumpel C. On the variable expression of the Brachmann‐de Lange syndrome. Clin Genet 1992:41:42–45. A mother of normal intelligence and her moderately mentally retarded son, both with the typical facia! features of the Brachmann‐de Lange syndrome, are reported. We discuss the variable expression of the Brachmann‐de Lange syndrome by comparing the autosomal dominant cases with the sporadic or presumed autosomal recessive cases. The autosomal dominant cases show milder symptoms in general. In our opinion, a de novo autosomal dominant mutation causes the severe form of the syndrome, recurrence within sibships being explained by germline mosaicism. In all convincingly autosomal dominant cases we found that the mother is the transmitting parent, suggesting genomic imprinting.