Literature DB >> 11857618

Prenatal diagnosis of partial tetrasomy 14: a case study.

Alice M George1, Lavinia Hallam, Paul Oei, Julie McGaughran.   

Abstract

Prenatal specimens were received from a fetus with abnormalities noted on ultrasound. A supernumerary marker chromosome (SMC) was detected: 47,XY,+mar. Fluorescence in situ hybridisation (FISH) further classified this to be partial tetrasomy for chromosome 14. We compare this finding with other cases of SMC (14) and further classify phenotype with karyotype. Copyright 2002 John Wiley & Sons, Ltd.

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Year:  2002        PMID: 11857618     DOI: 10.1002/pd.258

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  1 in total

1.  Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study.

Authors:  M D Graf; L Christ; J T Mascarello; P Mowrey; M Pettenati; G Stetten; P Storto; U Surti; D L Van Dyke; G H Vance; D Wolff; S Schwartz
Journal:  J Med Genet       Date:  2006-08       Impact factor: 6.318

  1 in total

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