21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features

Author:

Grigori Panagiota,Panayiotou Elena,Sismani Carolina,Koumbaris George,Ioannides Marios,Costalos Christos,Kosmaidou-Aravidou Zoe,Kousoulidou Ludmila,Patsalis Philippos C.

Funder

The Cyprus Research Promotion Foundation

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference11 articles.

1. Preliminary definition of a “critical region” of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature;Brown;Am. J. Med. Genet.,1993

2. The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32;Brown;Am. J. Hum. Genet.,1995

3. Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired;Brown;Nat. Genet.,1998

4. Interstitial deletion of long arm of chromosome 13;Carnevale;Ann. Genet.,1984

5. Phenotype and 244K Array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter;Kirchhoff;Am. J. Med. Genet.,2009

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