Literature DB >> 27617132

A New Case of a Complex Small Supernumerary Marker Chromosome: A Der(9)t(7;9)(p22;q22) due to a Maternal Balanced Rearrangement.

Marine Manvelyan1, Izabella Simonyan2, Galina Hovhannisyan3, Rouben Aroutiounian3, Ahmed B Hamid4, Thomas Liehr4.   

Abstract

Complex small supernumerary marker chromosomes (sSMCs) constitute one of the smallest subsets within the patients with an sSMC. Complex sSMCs consist of chromosomal material derived from more than one chromosome, for example, the derivative der(22)t(11;22)(q23;q11.2) in Emanuel syndrome. Here, a yet unreported case of a complex sSMC formed due to a t(7;9)(p22;q22)mat is presented.

Entities:  

Keywords:  complex small supernumerary marker chromosomes (sSMCs); genotype-phenotype correlation; partial trisomy 7; partial trisomy 9

Year:  2015        PMID： 27617132      PMCID： PMC4906527          DOI： 10.1055/s-0035-1565270

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  4 in total

Review 1.  Current developments in human molecular cytogenetic techniques.

Authors:  Thomas Liehr; Uwe Claussen
Journal:  Curr Mol Med       Date:  2002-05       Impact factor: 2.222

2.  A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).

Authors:  Molly B Sheridan; Takema Kato; Chad Haldeman-Englert; G Reza Jalali; Jeff M Milunsky; Ying Zou; Ruediger Klaes; Georgio Gimelli; Stefania Gimelli; Robert M Gemmill; Harry A Drabkin; April M Hacker; Julia Brown; David Tomkins; Tamim H Shaikh; Hiroki Kurahashi; Elaine H Zackai; Beverly S Emanuel
Journal:  Am J Hum Genet       Date:  2010-07-30       Impact factor: 11.025

Review 3.  Small supernumerary marker chromosomes (sSMC) in humans.

Authors:  T Liehr; U Claussen; H Starke
Journal:  Cytogenet Genome Res       Date:  2004       Impact factor: 1.636

4.  Complex small supernumerary marker chromosomes - an update.

Authors:  Thomas Liehr; Sanja Cirkovic; Tanja Lalic; Marija Guc-Scekic; Cynthia de Almeida; Jörg Weimer; Ivan Iourov; Maria Isabel Melaragno; Roberta S Guilherme; Eunice-Georgia G Stefanou; Dilek Aktas; Katharina Kreskowski; Elisabeth Klein; Monika Ziegler; Nadezda Kosyakova; Marianne Volleth; Ahmed B Hamid
Journal:  Mol Cytogenet       Date:  2013-10-31       Impact factor: 2.009
  4 in total
  2 in total

1.  Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype.

Authors:  Zong-Yu Miao; Shi-Feng Chen; Hong Wu; Xiao-Yan Liu; Hui-Yuan Shao
Journal:  Open Life Sci       Date:  2022-04-26       Impact factor: 1.311

2.  The First Neocentric, Discontinuous, and Complex Small Supernumerary Marker Chromosome Composed of 7 Euchromatic Blocks Derived from 5 Different Chromosomes.

Authors:  André Weber; Thomas Liehr; Ahmed Al-Rikabi; Simal Bilgen; Uwe Heinrich; Jenny Schiller; Markus Stumm
Journal:  Biomedicines       Date:  2022-05-10
  2 in total

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