Monozygotic twins with discordant karyotypes: a case report

A monochorionic twin pregnancy had normal male karyotype on chorionic villous sampling. At delivery, one twin presented as morphologically normal, the other as trisomy 21. A twinning event and chromosome division error shortly after conception resulted in monozygotic twins with discordant tissue kar...

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Bibliographic Details
Published in:The Journal of pediatrics 2004-09, Vol.145 (3), p.406-408
Main Authors: O'Donnell, Colm P.F., Pertile, Mark D., Sheffield, Leslie J., Sampson, Amanda
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Diseases of the osteoarticular system
Down Syndrome - blood
Down Syndrome - genetics
Female
Gastroenterology. Liver. Pancreas. Abdomen
General aspects
Humans
Infant, Newborn
Karyotyping
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Microsatellite Repeats - genetics
Tumors
Twins, Monozygotic - genetics
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Summary:A monochorionic twin pregnancy had normal male karyotype on chorionic villous sampling. At delivery, one twin presented as morphologically normal, the other as trisomy 21. A twinning event and chromosome division error shortly after conception resulted in monozygotic twins with discordant tissue karyotypes and blood chromosome chimerism for trisomy 21.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2004.06.024