Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy-Reference-Cited by-同舟云学术

Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy

Published:2012-05 Issue:5 Volume:55 Page:362-366
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Valetto Angelo,Orsini Alessandro,Bertini Veronica,Toschi Benedetta,Bonuccelli Alice,Simi Francesca,Sammartino Irene,Taddeucci Grazia,Simi Paolo,Saggese Giuseppe

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference14 articles.

1. Physical findings in 21q22 deletion suggest critical region for 21q-phenotype in q22;Theodoropoulos;Am. J. Med. Genet.,1995

2. Detailed molecular and clinical characterization of three patients with 21q deletions;Lindstrand;Clin. Genet.,2010

3. Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21;Lyle;Eur. J. Hum. Genet.,2009

4. Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies;Ehling;Am. J. Med. Genet.,2004

5. Distinctive phenotypic Abnormalities associated with submicroscopic 21q22 deletion including DYRK1A;Oegema;Mol. Syndromol.,2010

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