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46,XY/47,XY, + 17p + mosaicism in amniocytes associated with fetal abnormalities despite normal fetal blood karyotype


, : 46,XY/47,XY, + 17p + mosaicism in amniocytes associated with fetal abnormalities despite normal fetal blood karyotype. Prenatal Diagnosis 13(7): 637-642

46,XY/47,XY, + 17p + mosaicism was found in two primary amniotic fluid cultures (AFCs). Fetal blood karyotype was normal, but ultrasonography revealed Dandy-Walker malformation and bilateral choroid plexus cysts. Following termination of pregnancy, fetal examination revealed post-axial polydactyly and neuroblastoma-in-situ affecting both adrenals in addition to the cerebellar abnormalities. Mosaicism for the aberrant cell line was confirmed in all fetal tissues sampled and in the placenta.

US$29.90

PMID: 8415429


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