Literature DB >> 15602096

Isochromosome 20p associated with multiple congenital abnormalities.

Alan E Fryer1, Michael Ashworth, Jed Hawe, David Pilling, Margaret Pauling, Una Maye.   

Abstract

A second case of tetrasomy 20p due to an additional isochromosome 20p is reported. This resulted in a spontaneous intrauterine death with multiple congenital abnormalities. In keeping with the previous report, the foetus had poor ossification resulting in multiple long bone fractures.

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Year:  2005        PMID: 15602096     DOI: 10.1097/00019605-200501000-00012

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  1 in total

1.  An Unbalanced Rearrangement of Chromosomes 4:20 is Associated with Childhood Osteoporosis and Reduced Caspase-3 Levels.

Authors:  Esther Kinning; Martin McMillan; Sheila Shepherd; Miep Helfrich; Rob Vant Hof; Christopher Adams; Heather Read; Daniel M Wall; S Faisal Ahmed
Journal:  J Pediatr Genet       Date:  2016-06-03
  1 in total

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