Tricuspid atresia has not been reported in 22q11 microdeletions causing DiGeorge and velo-cardio-facial syndromes. We investigated the prevalence of 22q11 hemizygosity in 26 children with tricuspid atresia. Fluorescent hybridization with the Sc11.1 probe demonstrated a 22q11 microdeletion in 2 patie
Anterior laryngeal webs and 22q11 deletions
โ Scribed by Stoler, Joan M.; Ladoulis, Marisa; Holmes, Lewis B.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 2 KB
- Volume
- 79
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980901)79:2<152::aid-ajmg12>3.0.co;2-i
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๐ SIMILAR VOLUMES
In this Journal, Stratton and Payne [1997] described a child with frontonasal abnormality who was found to have a 22q11 deletion. Because this was the first time that the association of nasal bifidity and this deletion was recognized, causality could not be distinguished from coincidence, although t
A newborn boy with complex congenital heart disease, unilateral renal agenesis, and hypocalcemia was found to have a submicroscopic deletion of 22q11.2 (DiGeorge anomaly). In evaluating the pathogenesis of the hypocalcemia, repeatedly elevated or normal levels of parathyroid hormone were found, cons
We read with interest the paper by Leana-Cox et al. [1996] which reported on 5 families with recurrent Di-George/velocardiofacial syndrome and deletions of chromosome 22q11 (del22q11), and which reviewed the pertinent literature. The authors observed that up to 25% of del22q11 are inherited. Particu