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Prenat Diagn. 1992 Dec;12(12):1067-71.

Prenatal detection of multiple copies of a familial supernumerary marker chromosome.

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  • 1Department of Human Genetics, University of Newcastle upon Tyne, U.K.


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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