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Mosaicism for del(17) (p11.2p11.2) underlying the Smith-Magenis syndrome

✍ Scribed by Juyal, Ramesh C.; Kuwano, Akira; Kondo, Ikuko; Zara, Federico; Baldini, Antonio; Patel, Pragna I.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 471 KB
Volume: 66
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19961211)66:2<193::aid-ajmg13>3.0.co;2-o

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✦ Synopsis

Smith

-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with deletion of band p11.2 of chromosome 17. The deletion is typically detected by high-resolution cy- togenetic analysis of chromosomes from peripheral lymphocytes. Fluorescence in situ hybridization (FISH) has been previously used to rule out apparent mosaicism for de1(17)(p11.2p11.2) indicated by routine cy- togenetics. W e now report mosaicism for de1(17)(p11.2p11.2) in a child with SMS. The mosaicism had gone undetected during previous routine cytogenetic analysis. FISH analysis of peripheral lymphocytes as well as immortalized lymphoblasts using markers from 1 7 ~1 1 . 2 revealed that approximately 60% of cells carried the deletion. To our knowledge, this is the first case of SMS associated with mosaicism for del( 17)(p11.2p11.2).

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