A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features – Is cardiac assessment necessary for all patients with 17p13.3 microduplication?-Reference-Cited by-同舟云学术

A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features – Is cardiac assessment necessary for all patients with 17p13.3 microduplication?

Published:2012-12 Issue:12 Volume:55 Page:758-762
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Ho Alvin C.C.,Liu Anthony P.Y.,Lun K.S.,Tang W.F.,Chan Kelvin Y.K.,Lau Elizabeth Y.T.,Tang Mary H.Y.,Tan T.Y.,Chung Brian H.Y.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference6 articles.

1. Increased LIS1 expression affects human and mouse brain development;Bi;Nature Genetics,2009

2. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes;Bruno;Journal of Medical Genetics,2010

3. A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene;Avela;American Journal of Medical Genetics, Part A,2011

4. A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation;Hyon;European Journal of Medical Genetics,2011

5. A new microduplication syndrome encompassing the region of the Miller–Dieker (17p13 deletion) syndrome;Roos;Journal of Medical Genetics,2009

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