Literature DB >> 6967279

Partial trisomy 8 mosaicism with 46,XX/46,XX-8,+dic(8).

M Ray, A G Hunter.   

Abstract

We report a girl with partial trisomy-8 mosaicism whose clinical findings were those of the Warkany et al. (1962) [17] or trisomy 8 syndrome. A dicentric autosome, dic(8) (qter leads to p21::p21 leads to qter), was found in all abnormal cells and evidence is presented that one centromere was inactive, allowing the dicentric to behave as a monocentric chromosome. The parents had normal karyotypes.

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Year:  1980        PMID: 6967279

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


  2 in total

1.  The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications.

Authors:  G Floridia; M Piantanida; A Minelli; C Dellavecchia; C Bonaglia; E Rossi; G Gimelli; G Croci; F Franchi; S Gilgenkrantz; P Grammatico; L Dalprá; S Wood; C Danesino; O Zuffardi
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

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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