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Kousseff syndrome caused by deletion of chromosome 22q11-13

โœ Scribed by Forrester, Shawnia ;Kovach, Margaret J. ;Smith, Randell E. ;Rimer, Lisa ;Wesson, Melissa ;Kimonis, Virginia E.

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
117 KB
Volume
112
Category
Article
ISSN
0148-7299

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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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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