Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes-Reference-Cited by-同舟云学术

Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes

Published:2012-09-17 Issue:11 Volume:158A Page:2963-2968
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Fernández Luis,Nevado Julián,De Torres María L.,Mansilla Elena,Vallespín Elena,García-Miñaúr Sixto,Palomo Rebeca,Deirós Lucía,Cabrera Marta,Galo Elia Dina,Lapunzina Pablo,Delicado Alicia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35595/fullpdf

Reference10 articles.

1. Genetic dosage compensation in a family with Velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome;Alkalay;Am J Med Genet Part A,2011

2. Mechanisms and consequences of small supernumerary marker chromosomes: From Barbara McClintock to modern genetic-counseling issues;Baldwin;Am J Hum Genet,2008

3. Genetic compensation in a human genomic disorder;Carelle-Calmels;N Engl J Med,2009

4. Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements;Emanuel;Dev Disabil Res Rev,2008

5. Unusual 22q11 reciprocal rearrangement in a phenotypically normal mother of a child with 22q11.2 deletion syndrome. The 7th International 22q11.2 Deletion Meeting;Fernández;Mol Syndromol,2010

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1. Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents;Cytogenetic and Genome Research;2016

2. Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication;BMC Genetics;2014-11-07

3. Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier;BMC Medical Genetics;2014-10-29

4. Genetics of Chromosome 22q11.2 Deletion Syndrome;eLS;2013-01-15