Prometaphase chromosomes in five patients with the Brachmann-de Lange syndrome
β Scribed by Breslau, Elizabeth J. ;Disteche, Christine ;Hall, Judith G. ;Thuline, Horace ;Cooper, Pat ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1981
- Tongue
- English
- Weight
- 468 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0148-7299
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β¦ Synopsis
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 bases: the BDLS and the dup(3q) syndrome. We still recommend chromosome studies in any patients with BDLS and BDLSβlike manifestations.
π SIMILAR VOLUMES
We present 12 children with typical Brachmann-de Lange syndrome and congenital diaphragmatic hernia. Affected children were more likely to be of low birth weight and to have major upper limb malformations. Hernia repair was attempted in 4 of these children, and only one survived past 12 months. Newb