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A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome

✍ Scribed by Julia Hoefele; Meike Gabert; Uwe Heinrich; Kerstin Benz; Oliver Rompel; Imma Rost; Hanns-Georg Klein; Erdmute Kunstmann

Book ID
116433459
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
524 KB
Volume
55
Category
Article
ISSN
1769-7212

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## Abstract Distal interstitial deletions of chromosome 14 involving the 14q24‐q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3‐q32.2 in a m