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Prenatal diagnosis of partial tetrasomy 14: a case study
Alice M George1, Lavinia Hallam, Paul Oei
1Cytogenetics Department, LabPlus, Auckland Hospital, Auckland, New Zealand. aliceg@adhb.govt.nz
Prenatal Diagnosis
|February 22, 2002
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.