The first de novo non-mosaic 14q11.2q13.1 tetrasomy of paternal origin-Reference-Cited by-同舟云学术

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The first de novo non-mosaic 14q11.2q13.1 tetrasomy of paternal origin

Published:2016-01-20 Issue:5 Volume:170 Page:1283-1287
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Tomaszewska Agnieszka¹,Behrendt Jakub²,Boter Marjan³,Wawrzkiewicz-Witkowska Angelika¹,Bos Marnix J.³,Podbiol-Palenta Agnieszka¹,Godula-Stuglik Urszula²,Galjaard Robert-Jan H.³,Srebniak Malgorzata I.³

Affiliation:

1. Prenatal Diagnostic and Genetic Clinic; Medical University of Silesia; Zabrze Poland

2. Department of Pediatrics; NICU; Medical University of Silesia; Zabrze Poland

3. Department of Clinical Genetics; Erasmus Medical Center; Rotterdam The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37565/fullpdf

Reference25 articles.

1. Questionable pathogenicity of FOXG1 duplication;Amor;Eur J Hum Genet,2012

2. Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment;Brunetti-Pierri;Eur J Hum Genet,2011

3. Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46, XY karyotype;Chu;Am J Med Genet A,2004

4. Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q;Eggermann;Am J Med Genet A,2005

5. Do regulatory regions matter in FOXG1 duplications;Falace;Eur J Hum Genet,2013

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