Literature DB >> 3879154

Complex chromosomal rearrangement involving chromosomes 11, 13, 14 and 18 resulting in monosomy for 13q32----qter.

S A Al-Awadi, A S Teebi, T S Sundareshan.   

Abstract

A five-year-old boy with speech delay, minor facial abnormalities and borderline psychomotor retardation was found to have a complex de novo double translocation involving four chromosomes resulting in monosomy for the segment 13q32----qter. Chromosomes involved were 11, 13, 14, and 18. The translocation between chromosome 11 and 13 was unbalanced with the loss of the segment 13q32----qter. The second translocation between 14 and 18 was apparently balanced.

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Year:  1985        PMID: 3879154

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


  2 in total

1.  A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences.

Authors:  Natalia Trpchevska; Ivanka Dimova; Tatyana Arabadji; Tanya Milachich; Svetlana Angelova; Magdalena Dimitrova; Mariela Hristova-Savova; Petya Andreeva; Tania Timeva; Atanas Shterev
Journal:  J Assist Reprod Genet       Date:  2017-02-24       Impact factor: 3.412

2.  Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay.

Authors:  Marwan K Tayeh; Tracy Rocco; Todd Ackley; Leslie Ernst; Thomas Glover; Jeffrey W Innis
Journal:  Clin Case Rep       Date:  2015-04-09
  2 in total

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