Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization-Reference-Cited by-同舟云学术

Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization

Published:2015-04-09 Issue:1 Volume:8 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Yokoyama-Rebollar Emiy,Ruiz-Herrera Adriana,Lieberman-Hernández Esther,Del Castillo-Ruiz Victoria,Sánchez-Sandoval Silvia,Ávila-Flores Silvia M,Castrillo José Luis

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry (medical),Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Link

http://link.springer.com/content/pdf/10.1186/s13039-015-0127-6.pdf

Reference36 articles.

1. Pujana MA, Nadal M, Guitart M, Armengol L, Gratacos M, Estivill X. Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons. Eur J Hum Genet. 2002;10:26–35.

2. Horsthemke B, Wagstaff J. Mechanisms of imprinting of the Prader-Willi/Angelman region. Am J Med Genet A. 2008;146A:2041–52.

3. Jiang Y, Lev-Lehman E, Bressler J, Tsai TF, Beaudet AL. Genetics of Angelman syndrome. Am J Hum Genet. 1999;65:1–6.

4. Fauth C, Gribble SM, Porter KM, Codina-Pascual M, Ng BL, Kraus J. Micro-array analyses decipher exceptional complex familial chromosomal rearrangement. Hum Genet. 2006;119(1–2):145–53.

5. Bartsch O, Vlcková Z, Erdogan F, Ullmann R, Novotná D, Spiegel M, et al. Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis. Cytogenet Genome Res. 2007;119(1–2):158–64.

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1. A Case with Angelman Syndrome Carried de novo der(15q;15q) By de novo Paternal Uniparental Disomy;Muğla Sıtkı Koçman Üniversitesi Tıp Dergisi;2024-04-30

2. Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature;Cytogenetic and Genome Research;2016