Literature DB >> 9520257

Variant euchromatic band within 16q12.1.

R S Verma1, S M Kleyman, R A Conte.   

Abstract

The enlarged short arm of chromosome 16 resulting in an additional euchromatic band has been regarded as a variant. We present an unreported case with an unusual variant of chromosome 16, where the mother and daughter both have an additional band (q12.1) in the long arm. Its origin is chromosome 16, as revealed by FISH-technique, and its familial nature suggests that it has no clinical significance.

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Year:  1997        PMID: 9520257     DOI: 10.1111/j.1399-0004.1997.tb02567.x

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


  2 in total

1.  Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): fine mapping and FTO gene expression study.

Authors:  Linda van den Berg; Henriette Delemarre-van de Waal; Joan C Han; Bauke Ylstra; Paul Eijk; Maria Nesterova; Peter Heutink; Constantine A Stratakis
Journal:  Am J Med Genet A       Date:  2010-03       Impact factor: 2.802

Review 2.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

  2 in total

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