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Reply to “What's in a name? The 22q11.2 deletion”

✍ Scribed by Wulfsberg, Eric A.; Leana-Cox, Julie; Neri, Giovanni

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 3 KB
Volume: 72
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971017)72:2<248::aid-ajmg26>3.0.co;2-m

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What's in a name? The 22q11.2 deletion

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Fig. . The 22q.11.2 story can be likened to the old adage of a group of blind men trying to identify an elephant by each examining a separate part. Each man was accurate in describing his own area of interest, but none was able to see the big picture. Several conditions once thought to be separate a

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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

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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

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We report on a new patient with deletion of 22q11 associated with hemophagocytic lymphohistiocytosis and a fatal outcome. She had minor facial anomalies and cardiac malformation corresponding to those described in del (22q11) syndrome, normal T and B cell function and NK activity; bone marrow aspira

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22q11 deletion syndrome in adults with schizophrenia

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Genetic syndromes associated with deletions at chromosome 22q11 generally have been diagnosed during childhood based on a constellation of physical features. To investigate a reported association of velocardiofacial syndrome with psychotic disorders in adults, we assessed subjects with DSM-IV schizo

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We report on male monozygotic twins with 22q11.2 deletion and discordant phenotypes. The twins had twin-to-twin transfusion syndrome. Twin 1, the smaller of the pair, had Tetralogy of Fallot, a characteristic facial appearance, swallowing dysfunction, anal atresia, short stature, and mental retardat