Prenatal diagnosis of partial tetrasomy 14: a case study |
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| Authors: | Alice M George Lavinia Hallam Paul Oei Julie McGaughran |
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| Institution: | 1. Cytogenetics Department, LabPlus, Auckland Hospital, Auckland, New Zealand;2. Department of Pathology, LabPlus, Auckland Hospital, Auckland, New Zealand;3. Northern Regional Genetics Service, Auckland Hospital, Auckland, New Zealand |
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| 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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| Keywords: | tetrasomy 14 marker chromosome |
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