Clinical Genetics · 1992 · 15 citations · 16 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsPediatric GeneticsCongenital DisordersGenetic DisordersGenetic SyndromesGenomic ImprintingImprinting DisordersNeurogenetic DisordersAutosomal Dominant InheritanceAutosomal Recessive InheritanceDe Novo Mutations In Developmental DisordersFamilial SyndromesGenomic Imprinting DisordersGenomic Imprinting MechanismsGermline MosaicismVariable Expressivity
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.
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R.E. Magenis, S Toth-Fejel, Leland Allen et al. · American Journal of Medical Genetics · 1990 · 198 citations
The Cornelia de Lange syndrome
Louis J. Ptáček, John M. Opitz, David W. Smith et al. · The Journal of Pediatrics · 1963 · 170 citations