Literature DB >> 3220792

Trisomy 3q2 and Pierre-Robin sequence in a boy with unbalanced 46,XY, der(10), t(3;10)(q23;q26.3) de novo karyotype.

A Kleczkowska1, J P Fryns, F Moerman, M Martens, E Eggermont, J Jaeken, H Van den Berghe.   

Abstract

A partial trisomy of the long arm of chromosome number 3 (3q23----3qter) is reported in a malformed male newborn with a Pierre-Robin sequence. The importance of the detection of chromosomal abnormalities towards the nosology of malformation sequences is discussed.

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Year:  1988        PMID: 3220792

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN: 0018-022X


  1 in total

Review 1.  Intrachromosomal insertions: a case report and a review.

Authors:  K Madan; F H Menko
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

  1 in total

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