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Human and Medical Genetics • Genet. Mol. Biol. 29 (1) • 2006 • https://doi.org/10.1590/S1415-47572006000100006   copy

Chimerism 47,XY,+21/46,XX in a female infant with anencephaly and other congenital defects

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Chimerism is rare in humans and is usually discovered accidentally when a 46,XX and 46,XY karyotype is found in a same individual. We describe a malformed female infant with neural tube defect (NTD) and a 47,XY,+21[5]/46,XX[30] karyotype.

chimerism; anencephaly; trisomy 21

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