Literature DB >> 2191794

Trisomy 20q. A new case and further phenotypic delineation.

C Herens1, A Verloes, F Laloux, L Van Maldergem.   

Abstract

The present report concerns the clinical and cytogenetic findings in a liveborn girl with trisomy for the long arm of chromosome 20. She was the unbalanced product of a maternal t(18;20)(q23.2;q13.1) translocation. Our case is compared to the 3 previous reports of trisomy 20q associated with telomeric translocation. Adenosine deaminase dosage falls in the normal range and confirms the exclusion of the ADA locus from the region extending distally to 20q13.1.

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Year:  1990        PMID： 2191794     DOI： 10.1111/j.1399-0004.1990.tb03520.x

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


  2 in total

1.  Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.

Authors:  Annemieke J M H Verkerk; Rachel Schot; Laura van Waterschoot; Hannie Douben; Pino J Poddighe; Maarten H Lequin; Linda S de Vries; Paulien Terhal; Johanne M D Hahnemann; Irenaeus F M de Coo; Marie-Claire Y de Wit; Leontien S Wafelman; Livia Garavelli; William B Dobyns; Peter J Van der Spek; Annelies de Klein; Grazia M S Mancini
Journal:  Am J Med Genet A       Date:  2010-06       Impact factor: 2.802

2.  Meiotic analysis by FISH of a human male 46,XY,t(15;20)(q11.2;q11.2) translocation heterozygote: quadrivalent configuration, orientation and first meiotic segregation.

Authors:  A S Goldman; M A Hultén
Journal:  Chromosoma       Date:  1993-01       Impact factor: 4.316
  2 in total

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