No uniparental disomy for chromosome 3 in Brachmann-De Lange syndrome
β Scribed by De Marchi, Nicola ;Antonarakis, Stylianos E. ;Jackson, Laird
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 183 KB
- Volume
- 49
- Category
- Article
- ISSN
- 0148-7299
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## Abstract We analyzed the prometaphase chromosomes of 5 patients (including one pair of sibs) with the Brachmannβde Lange syndrome (BDLS), and did not find a significant chromosome abnormality in any of them. It appears that two distinct entities can be distinguished on clinical and chromosomal b
## Abstract Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited disorder characterized by multisystem involvement, cognitive delay, limb defects, and characteristic facial features. Recently, mutations in __NIPBL__ have been found in βΌ50% of individuals with CdLS. Numerous chro