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Boy with an interstitial 1q (q31q41) duplication confirmed by fluorescent in situ hybridisation

✍ Scribed by Sill�n, Anna; Wadelius, Claes; Anner�n, G�ran

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 32 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981102)80:2<163::aid-ajmg14>3.0.co;2-z

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✦ Synopsis

A 20-year-old man with multiple anomalies caused by a de novo duplication of the long arm of chromosome 1 is presented. The patient suffers from severe mental retardation, epilepsy, bronchial stenosis, and minor anomalies (e.g., hirsutism, midface dysplasia, and beaked nose). A G-banding analysis of the patient's chromosomes showed additional segments in chromosome 1. Fluorescent in situ hybridisation analysis with a chromosome 1 painting probe showed that the extra material originated from chromosome 1. Further analysis with cosmid probes demonstrated that the region involving chromosome bands 1q31 to q41 is present in a tandem duplication. Am.

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