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Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion

✍ Scribed by Andreas Tzschach; Ines Krause-Plonka; Corinna Menzel; Andreas Knoblauch; Holger Toennies; Maria Hoeltzenbein; Michael Radke; Hans-Hilger Ropers; Vera Kalscheuer

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 104 KB
Volume: 140A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31226

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✦ Synopsis

Abstract

Interstitial deletions of 10q are rare, and only one patient with a deletion confined to chromosome band 10q22 has been reported so far. We report on a 2 6/12‐year‐old girl with a constitutional interstitial deletion of one homologue of 10q [karyotype: 46,XX,del(10)(q22.2q22.3)de novo]. Our patient had muscular hypotonia, developmental delay, growth retardation, mild facial dysmorphism, and hypoplastic labia minora. The precise location and extent (3.6 Mb) of the deletion was determined by fluorescence in situ hybridization (FISH) using 16 YAC and BAC clones. The clinical features in our patient are remarkably similar to the previously reported patient with a 10q22.2 deletion. © 2006 Wiley‐Liss, Inc.

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