Literature DB >> 1466566

An apparent balanced translocation [t(9;11)(p21.2;p14.2)] in a neonate with dysmorphic features.

R A Conte1, S E Sayegh, R S Verma.   

Abstract

The role of so called balanced translocations in human morphogenesis remains puzzling. An eleven month old hispanic female was referred for neurological evaluation. The major dysmorphic features include: epicanthal folds, flat nasal bridge, small mouth, micrognathia, low set ears and cleft-palate. The cytogenetic findings by multiple banding techniques revealed an apparent balanced translocation involving chromosomes 9p and 11p i.e. 46,XX,t(9;11)(p21.2;p14.2) which, according to the authors, has not been previously reported.

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Year:  1992        PMID: 1466566

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  1 in total

1.  Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report.

Authors:  Caroline Lekszas; Indrajit Nanda; Barbara Vona; Julia Böck; Farah Ashrafzadeh; Nahid Donyadideh; Farnoosh Ebrahimzadeh; Najmeh Ahangari; Reza Maroofian; Ehsan Ghayoor Karimiani; Thomas Haaf
Journal:  BMC Med Genomics       Date:  2019-06-07       Impact factor: 3.063

  1 in total

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