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
Ring-11 chromosome: Phenotype-karyotype correlation with deletions of 11q
โ Scribed by Cousineau, Anthony J. ;Higgins, James V. ;Scott-Emuakpor, Ajovi B. ;Mody, Gita ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 430 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0148-7299
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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
## Abstract We report sporadic occurrence of deletion of the long arm of chromosome 11 (q23 โ qter) in a male newborn infant with intrauterine growth retardation, craniofacial, cardiac, and orthopedic abnormalities and neonatal death but without genital abnormalities. This deletion is seen predomin
We have studied two brothers with submicroscopic 22q11 deletion. One brother had findings suggestive of DiGeorge syndrome, while the other had milder anomalies, including polydactyly. Fluorescence in situ hybridization (FISH) showed a minor cell line with deletion 22q11 in the mother. To our knowled