Prenatal detection of multiple copies of a familial supernumerary marker chromosome |
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| Authors: | J Wolstenholme J A Brummitt C J English J A Goodship |
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| Institution: | Department of Human Genetics, University of Newcastle upon Tyne, 19/20 Claremont Place, Newcastle upon Tyne, NE2 4AA, U.K. |
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| Abstract: | Direct preparations and long-term cultures from a chorion villus biopsy, taken because of a known maternal additional marker chromosome, showed a 48,XX,+mar,+mar karyotype in all cells examined. The same karyotype was revealed in a subsequent amniotic fluid sample and in cord blood at delivery. Detailed examination of the child at delivery and at 1 year of age showed no evidence of phenotypic abnormality or developmental problems. |
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| Keywords: | Marker chromosome Multiple copies Familial Prenatal diagnosis |
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