De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly-Reference-Cited by-同舟云学术

De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly

Published:2013-02-07 Issue:3 Volume:161 Page:632-636
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Resta Nicoletta,De Cosmo Lucrezia,Susca Francesco Claudio,Capodiferro Donatella,Nardone Anna Maria,Pastorivo Diana,Bertoli Marta,Serlenga Carmela,Burattini MariaGabriella,Schettini Federico,Laforgia Nicola

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference29 articles.

1. Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLP;Barbaro;Eur J Hum Genet,2009

2. First clinical case of small de novo duplication of 19q (13. 3-13. 4) confirmed by FISH;Bhat;Am J Med Genet,2000

3. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification;Boycott;Am J Hum Genet,2005

4. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome);Boycott;J Child Neurol,2009

5. Duplication of distal 19q: Clinical report and review;Boyd;Am J Med Genet,1992

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