Literature DB >> 3879147

[Reciprocal syndromes caused by deficiency duplication resulting from maternal t(10;18)(p12;q22) translocation].

M O Rethoré, M Prieur, M C de Blois, J Naffah, A Ravel, E Villain, J Lejeune.   

Abstract

The detection of a familial translocation, t(10;18)(p12;q22), has made possible the observation in type and countertype of two related persons with opposite chromosomal imbalance: trisomy 18q22----18qter with monosomy 10p12----10pter in one of the two and monosomy 18q22----10pter in the other. In each case the abnormalities attributable to monosomy overrule those attributable to monosomy overrule those attributable to the associated trisomy.

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Year:  1985        PMID: 3879147

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


  1 in total

1.  Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism.

Authors:  M M Lai; P N Scriven; C Ball; A C Berry
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

  1 in total

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