W e report on familial occurrence of the Brachmann-de Lange syndrome (BDLS): a mildly affected father and his severely affected son and daughter who have different mothers. Both children are severely affected while the father has a much milder but definite BDLS phenotype. Our report documents the th
Male-to-male transmission of mild Bachmann-de Lange syndrome
β Scribed by Chodirker, Bernard N. ;Chudley, Albert E.
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 502 KB
- Volume
- 52
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
β¦ Synopsis
We report on a father and son with mild Brachmann-de Lange syndrome. Previous reports have documented apparent autoso-ma1 dominant transmission; however, only one example of male-to-male transmission of possible Brachmann-de Lange syndrome has been reported. This case provides further evidence of the existence of an autoso-ma1 dominant form of Brachmann-de Lange syndrome.
π SIMILAR VOLUMES
## Abstract We describe three patients with a comparable deletion encompassing __SLC25A43__, __SLC25A5__, __CXorf56__, __UBE2A__, __NKRF__, and two nonβcoding RNA genes, __U1__ and __LOC100303728__. Moderate to severe intellectual disability (ID), psychomotor retardation, severely impaired/absent s
Cornelia de Lange syndrome (CdLS; also called Brachmann de Lange syndrome) is a developmental disorder characterized by typical facial dysmorphism, growth and mental retardation, microcephaly, and various malformations. Mutations in the NIPBL gene have been identified in approximately 40% of reporte