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Prenatal diagnosis of partial tetrasomy 14: a case study
Author(s) -
George Alice M.,
Hallam Lavinia,
Oei Paul,
McGaughran Julie
Publication year - 2002
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.258
Subject(s) - tetrasomy , small supernumerary marker chromosome , karyotype , prenatal diagnosis , supernumerary , fluorescence in situ hybridization , marker chromosome , chromosome , aneuploidy , biology , fetus , isochromosome , fish <actinopterygii> , genetics , pathology , medicine , pregnancy , anatomy , gene , fishery
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.