Literature DB >> 9192276

Mosaicism for trisomy 3q arising from an unbalanced, de novo t(3;15).

R Stallings1, D Vaughn, K Hall, C Joyce, F Ryan, D Barton, M Geraghty.   

Abstract

We report on a 2 1/2 year old girl who is dysmorphic, developmentally delayed, and mosaic for an unbalanced, de novo translocation between chromosomes 3 and 15. The karyotype from peripheral blood lymphocytes is 46,XX (50) and the karyotype from skin fibroblasts is 46,XX (28)/46,XX,der(15)t(3;15)(q11;p11) (23). The mechanism for the generation of this unbalanced, de novo translocation is discussed.

Entities:  

Mesh：

Year:  1997        PMID： 9192276      PMCID： PMC1050979          DOI： 10.1136/jmg.34.6.512

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  1 in total

1.  Further delineation of the dup(3q) syndrome.

Authors:  G N Wilson; M Dasouki; M Barr
Journal:  Am J Med Genet       Date:  1985-09
  1 in total
  3 in total

1.  Prenatally diagnosed partial trisomy 3q case with an omphalocele and less severe phenotype.

Authors:  Deniz Cemgil Arıkan; Ayhan Coşkun; Ilker Arıkan; Gürkan Kıran; Gülay Ceylaner
Journal:  J Turk Ger Gynecol Assoc       Date:  2010-12-01

2.  Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism.

Authors:  Caroline Robberecht; Thierry Voet; Gülen E Utine; Albert Schinzel; Nicole de Leeuw; Jean-Pierre Fryns; Joris Vermeesch
Journal:  Mol Cytogenet       Date:  2012-04-10       Impact factor: 2.009

3.  Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH Methods

Authors:  Sadaf Omori Sarabi; Javad Karimzad Hagh; Claudia Behrend; Seyed Behrooz Mohseni; Mitra Ansari Dezfouli; Seyed Khalil Rashidi; Mir Davood Omrani
Journal:  Iran Biomed J       Date:  2019-07-14
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.