A 10.43 Mb duplication of chromosome region 5q31.2-q32 associated with a general delay in psychomotor development

Author:

Santoro EduardoORCID,Pandolfo Henrique,Rosenfeld Jill,Raskin Salmo

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference9 articles.

1. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication;Ballif;Mol. cytogenet.,2008

2. Long-term follow up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA;Bonaglia;BioMed Central,2015

3. Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116C/D box snoRNA cluster in Prader Willi syndrome;Duker;Eur. J. Hum. Genet.,2010

4. A 10Mb duplication in chromosome band 5q31.3 – 5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis;Faguer;Eur. J. Med. Genet.,2011

5. Atraso global do desenvolvimento psicomotor;Ferreira;Rev Port Clin Geral,2004

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