Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation-Reference-Cited by-同舟云学术

Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation

Published:2015-09-03 Issue:12 Volume:167 Page:3130-3138
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Corsello Giovanni¹,Salzano Emanuela¹,Vecchio Davide¹,Antona Vincenzo¹,Grasso Marina²,Malacarne Michela²,Carella Massimo³,Palumbo Pietro³,Piro Ettore¹,Giuffrè Mario¹

Affiliation:

1. Department of Sciences for Health Promotion and Mother and Child Care; Università di Palermo; Palermo Italy

2. Laboratory of Human Genetics; Galliera Hospital; Genoa Italy

3. Medical Genetics Service; IRCCS Casa Sollievo della Sofferenza; San Giovanni Rotondo (FG) Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37293/fullpdf

Reference53 articles.

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2. Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32;Beygo;Eur J Hum Genet,2014

3. Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients;Braybrook;Hum Molec Genet,2002

4. Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster;Buiting;Hum Mutat,2008

5. The imprinted retrotransposon-Like Gene PEG11 (RTL1) is expressed as a full-Length protein in skeletal muscle from Callipyge Sheep;Byrne;PLoS ONE,2010

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