Literature DB >> 6705241

Familial balanced insertion (5;10) and monosomy and trisomy (10) (q24.2----q25.3).

M J van de Vooren, H T Planteydt, A Hagemeijer, M F Peters-Slough, M J Timmerman.   

Abstract

The phenotype of a boy with monosomy of a small segment of chromosome (10) (q24.2----q25.3) is described. In his family a balanced insertion (5;10) is found in three generations. Moreover there are two persons who are trisomic for the same small segment of chromosome 10 for which the boy is monosomic.

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Year:  1984        PMID： 6705241     DOI： 10.1111/j.1399-0004.1984.tb00462.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  3 in total

Review 1.  Interstitial deletion of chromosome 10q23: a new case and review.

Authors:  S A Farrell; W Szymonowicz; G Chow; A M Summers
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

2.  Severe mental retardation in six generations of a large South African family carrying a translocation t(6;10)(q27;q25.2).

Authors:  J Brusnický; K M van Heerden; G de Jong; A S Cronjé; A E Retief
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

3.  Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.

Authors:  Jill A Rosenfeld; Blake C Ballif; Donna M Martin; Arthur S Aylsworth; Bassem A Bejjani; Beth S Torchia; Lisa G Shaffer
Journal:  Hum Genet       Date:  2010-04       Impact factor: 4.132
  3 in total

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