Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11-Reference-Cited by-同舟云学术

Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11

Published:2017-03-22 Issue:4 Volume:173 Page:1056-1060
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kekis Mariana¹,Deeg Carol¹,Hashimoto Sayaka¹²,McKinney Aimee¹,Erdman Linda¹,Green-Geer Cecelia¹,Shuss Christine²³,Hickey Scott²³,Astbury Caroline¹⁴,Pyatt Robert E.¹⁴

Affiliation:

1. Departmentof Pathology and Laboratory Medicine; Nationwide Children's Hospital; Columbus Ohio

2. Department of Pediatrics; The Ohio State University College of Medicine; Columbus Ohio

3. Division of Molecular and Human Genetics; Nationwide Children's Hospital; Columbus Ohio

4. Department of Pathology; The Ohio State University College of Medicine; Columbus Ohio

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference15 articles.

1. Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication;Beck;PLoS Genet,2015

2. Absence of heterozygosity due to template switching during replicative rearrangements;Carvalho;Am J Hum Genet,2015

3. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome;Carvalho;Nat Genet,2011

4. A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter;Fujita;Am J Med Genet Part A,2013

5. Common structural features characterize interstitial intrachromosomal Xp and 18q triplications;Giorda;Am J Med Genet Part A,2011

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1. Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism;Taiwanese Journal of Obstetrics and Gynecology;2021-01

2. Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome;Genome Medicine;2019-04-23