Literature DB >> 3066281

Trisomy 8p by malsegregation of a t(5;8)(p15;p11)mat in a case of XY pure gonadal dysgenesis.

L Memo1, E Lenzini, C Baccichetti.   

Abstract

A new case of trisomy 8p due to balanced t(5;8)(p15;p11)mat in a phenotypically female infant with a male karyotype is reported; postmortem examination disclosed streak gonads.

Entities:  

Mesh：

Year:  1988        PMID： 3066281

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


  2 in total

1.  Trisomy 8p: unusual origin detected by fluorescence in situ hybridization.

Authors:  C M Moore; K Barnum; C I Kaye; K S Kagan-Hallett; J C Liang
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

2.  Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development.

Authors:  M C Digilio; A Giannotti; G Floridia; F Uccellatore; R Mingarelli; C Danesino; B Dallapiccola; O Zuffardi
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318
  2 in total

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