Literature DB >> 22470827

A case report of a meiotic segregation study on a small supernumerary marker chromosome.

Ivan Gabrielli1, Domenico Bizzoco, Alvaro Mesoraca, Pietro Cignini, Claudio Giorlandino.   

Abstract

Small supernumerary marker chromosomes (sSMCs) have been described from all human chromosomes with different sizes and shapes. However, it is difficult to know the clinical manifestations associated with them, because such knowledge depends on the size, presence of euchromatic material, degree of mosaicism and/or uniparental disomy (UPD).A case report of a familial small supernumerary marker chromosome (sSMC) through a structural and a segregation study is reported.

Entities:  

Year:  2007        PMID： 22470827      PMCID： PMC3309336     

Source DB:  PubMed          Journal:  J Prenat Med        ISSN： 1971-3282


  3 in total

1.  Small supernumerary marker chromosomes--progress towards a genotype-phenotype correlation.

Authors:  T Liehr; K Mrasek; A Weise; A Dufke; L Rodríguez; N Martínez Guardia; A Sanchís; J R Vermeesch; C Ramel; A Polityko; O A Haas; J Anderson; U Claussen; F von Eggeling; H Starke
Journal:  Cytogenet Genome Res       Date:  2006       Impact factor: 1.636

Review 2.  FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature.

Authors:  J A Crolla
Journal:  Am J Med Genet       Date:  1998-02-03

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
  3 in total
  1 in total

Review 1.  Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives.

Authors:  Wafa Slimani; Afef Jelloul; Ahmed Al-Rikabi; Amira Sallem; Yosra Hasni; Salma Chachia; Adel Ernez; Anouar Chaieb; Mohamed Bibi; Thomas Liehr; Ali Saad; Soumaya Mougou-Zerelli
Journal:  J Assist Reprod Genet       Date:  2020-05-12       Impact factor: 3.412
  1 in total

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