46,XY/47,XY, + 17p + mosaicism in amniocytes associated with fetal abnormalities despite normal fetal blood karyotype.
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.
Kingston
H M
HM
Regional Genetics Centre, St Mary's Hospital, Manchester, U.K.
Nicolini
U
U
Haslam
J
J
Andrews
T
T
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology*; D002490:Central Nervous System / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002886:Chromosomes, Human, Pair 17; D005260:Female; D005312:Fetal Blood / Q000502:physiology*; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D011247:Pregnancy; D014463:Ultrasonography