Complexde novochromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature-Reference-Cited by-同舟云学术

Complexde novochromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature

Published:2014-10-22 Issue:1 Volume:167 Page:221-230
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Castronovo Chiara¹,Crippa Milena¹,Bestetti Ilaria¹²,Rusconi Daniela¹,Russo Silvia¹,Larizza Lidia¹³,Sangermani Roberto⁴,Bonati Maria Teresa⁵,Finelli Palma¹²

Affiliation:

1. Laboratory of Medical Cytogenetics and Molecular Genetics; IRCCS Istituto Auxologico Italiano; Milano Italy

2. Department of Medical Biotechnology and Translational Medicine; University of Milan; Milano Italy

3. Medical Genetics; Department of Health Sciences; University of Milan; Milano Italy

4. Clinic of Neuropediatrics; San Carlo Borromeo Hospital; Milano Italy

5. Clinic of Clinical Genetics; San Luca Hospital; IRCCS Istituto Auxologico Italiano; Milano Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference32 articles.

1. Inherited interstitial duplications of proximal 15q: Genotype-phenotype correlations;Browne;Am J Hum Genet,1997

2. Duplication of the 15q11-patient with autism, epilepsy and ataxia;Bundey;Dev Med Child Neurol,1994

3. Microdeletion/microduplication of proximal 15q11. 2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay;Burnside;Hum Genet,2011

4. Paternal triplication of 15q11-q13 in a hypotonic developmentally delayed child without Prader-Willi or Angelman syndrome;Cassidy;Am J Med Genet Part A,1996

5. Intrachromosomal triplication of proximal 15q;Chadwick;Am J Hum Genet,1996

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