A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome-Reference-Cited by-同舟云学术

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A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome

Published:2014 Issue:1 Volume:7 Page:37
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Haltrich Irén,Pikó Henriett,Kiss Eszter,Tóth Zsuzsa,Karcagi Veronika,Fekete György

Publisher

Springer Science and Business Media LLC

Subject

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

Reference19 articles.

1. Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms

2. Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals

3. A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family

4. Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

5. FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22)

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1. Ring Chromosome 22;Human Ring Chromosomes;2024

2. Cat Eye Syndrome with a Unique Liver and Dermatological Presentation;Cureus;2023-04-04

3. Cat-Eye Syndrome: A Report of Two Cases and Literature Review;Cureus;2022-06-25

4. Cat-eye syndrome (a psychiatric aspect);Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova;2019

5. Transmission of Induced Chromosomal Aberrations through Successive Mitotic Divisions in Human Lymphocytes after In Vitro and In Vivo Radiation;Scientific Reports;2017-06-12

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