Literature DB >> 9916836

Mosaicism with a normal cell line and an unbalanced structural rearrangement.

A L Zaslav1, S Fallet, D Blumenthal, J Jacob, J Fox.   

Abstract

Mosaicism with a normal cell line (N) and an unbalanced autosomal structural rearrangement (UASR) is rare. This report describes a case of a newborn female with a karyotype of 46,XX,der(4)t(4;15)(q35;q22)/46,XX. Molecular cytogenetic analysis confirmed the origin of the derivative chromosome 4. Here we discuss this case as well as other cases of mosaic karyotypes involving N/UASR.

Mesh：

Year:  1999        PMID： 9916836

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  4 in total

1.  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

2.  Persistent mosaicism for 12p duplication/triplication chromosome structural abnormality in peripheral blood.

Authors:  Amy L Shackelford; Laura K Conlin; Marybeth Hummel; Nancy B Spinner; Sharon L Wenger
Journal:  Case Rep Genet       Date:  2013-09-15

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

4.  Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders.

Authors:  Xiaolin Hu; Elizabeth K Baker; Jodie Johnson; Stephanie Balow; Loren D M Pena; Laura K Conlin; Qiaoning Guan; Teresa A Smolarek
Journal:  Mol Cytogenet       Date:  2022-03-05       Impact factor: 2.009
  4 in total

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