Abstract
Small supernumerary marker chromosomes (sSMCs), are additional abnormal chromosomes, which can't be detected accurately by banding cytogenetic analysis. Abnormal phenotypes were observed in about 30% of SMC carriers. Duplication of chromosome 15 and related disorders, characterized by hypotonia motor delays, autism spectrum disorder (ASD), intellectual disability, and epilepsy including infantile spasms, might be account for 50% of the total sSMCs. An 11-month-old infant with an sSMC found by banding cytogenetics was referred to our clinic because of developmental retardation and autism spectrum disorder. After several months of rehabilitation treatment, the progress of motor development was obvious, but the consciousness was still far from satisfied. High-resolution karyotype analysis, multiplex ligation-dependent probe amplification and copy number variation sequencing (CNV-Seq) were conducted to confirm the identity of the sSMC. A bisatellited dicentric sSMC was observed clearly in high-resolution karyotype analysis and a 10.16-Mb duplication of 15q11.1q13.2 (3.96 copies) together with a 1.84-Mb duplication of 15q13.2q13.3 (3 copies) was showed by CNV-Seq in the proband. It suggested that the molecular cytogenetic karyotype ...Continue Reading
References
Apr 7, 1977·Human Genetics·R R SchreckO J Miller
Sep 1, 1979·Human Genetics·L WisniewskiJ V Higgins
Jan 1, 1985·Human Genetics·K E BucktonH J Evans
Mar 1, 1984·American Journal of Medical Genetics·L A KnightR Bachman
Jan 1, 1981·Human Genetics·P MaraschioG Zamboni
Jan 1, 1981·Human Genetics·G StettenV L Corson
Dec 31, 1997·American Journal of Medical Genetics·J A CrollaN R Dennis
Jul 31, 2003·Nucleic Acids Research·Martti T TammiBjörn Andersson
Sep 19, 2003·Human Genetics·Heike StarkeThomas Liehr
Nov 21, 2008·Orphanet Journal of Rare Diseases·Agatino Battaglia
Mar 10, 2009·BMC Bioinformatics·Chao Xie, Martti T Tammi
Aug 2, 2011·Annual Review of Genomics and Human Genetics·Christian P SchaafArthur L Beaudet
Feb 8, 2014·Epilepsia·Kerry D ConantRonald L Thibert
Oct 24, 2014·American Journal of Medical Genetics. Part a·Chiara CastronovoPalma Finelli
Sep 1, 2015·Advanced Biomedical Research·Hamideh Jafari-GhahfarokhiPayam Ghasemi-Dehkordi
Oct 19, 2016·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
Mar 28, 2017·Molecular Cytogenetics·Lana StavberTinka Hovnik
Feb 15, 2018·Molecular Cytogenetics·Haiyu LiYue-Qiu Tan
Sep 14, 2018·Scientific Reports·Masatoshi NaganoHidenori Suzuki
Nov 10, 2018·Human Mutation·Nehir Edibe KurtasOrsetta Zuffardi