On the variable expression of the Brachmann-de Lange syndrome
| Autor: | Jean-Pierre Frijns, Constance T.R.M. Schrander-Stumpel, P Theunissen, C.E.M. de Die-Smulders |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Genetics Mosaicism Intelligence Infant Newborn Normal intelligence Genes Recessive Germline mosaicism Biology Variable Expression Phenotype Moderately mentally retarded De Lange Syndrome Face Intellectual Disability Brachmann de Lange syndrome Mutation (genetic algorithm) Humans Female Genomic imprinting Genetics (clinical) Genes Dominant |
| Zdroj: | Clinical Genetics. 41:42-45 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1992.tb03628.x |
| Popis: | A mother of normal intelligence and her moderately mentally retarded son, both with the typical facial 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. |
| Databáze: | OpenAIRE |
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