Since establishment of fluorescence in situ hybridization (FISH), microdeletions in 22q11.2 were detectable in an increasing number of patients with DiGeorge anomaly, velocardiofacial syndrome (VCFS, syn. Shprintzen syndrome) and conotruncalanomaly-face syndrome [Scambler et al., 1991;Carey et al.,
Genitourinary Malformations in Chromosome 22q11.2 Deletion
β Scribed by WU, HSI-YANG; RUSNACK, SUSAN L.; BELLAH, RICHARD D.; PLACHTER, NATALIE; McDONALD-McGINN, DONNA M.; ZACKAI, ELAINE H.; CANNING, DOUGLAS A.
- Book ID
- 122423084
- Publisher
- Lippincott Williams and Wilkins
- Year
- 2002
- Tongue
- English
- Weight
- 49 KB
- Volume
- 168
- Category
- Article
- ISSN
- 0022-5347
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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
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