Literature DB >> 6606381

[Double trisomy and transmitted pericentric inversion (48,XXY, +21,inv(22)). Interchromosomal effect].

R Saura, M Longy, M Sautarael, M Renouil, B Sandler.   

Abstract

A patient is reported, carrier of a double aneuploidy (trisomy 21 and XXY) associated with a pericentric inversion 22 inherited from the mother. The role of this structural rearrangement at the origin of the double aneuploidy is discussed.

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Mesh：

Year:  1983        PMID： 6606381

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


  2 in total

1.  A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21.

Authors:  I Lorda-Sanchez; M B Petersen; F Binkert; M Maechler; W Schmid; P A Adelsberger; S E Antonarakis; A Schinzel
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

2.  Pericentric inversions in man: personal experience and review of the literature.

Authors:  A Kleczkowska; J P Fryns; H Van den Berghe
Journal:  Hum Genet       Date:  1987-04       Impact factor: 4.132
  2 in total

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