Premium
46,XY/47,XY,+ 17p+ mosaicism in amniocytes associated with fetal abnormalities despite normal fetal blood karyotype
Author(s) -
Kingston Helen M.,
Nicolini Umberto,
Haslam John,
Andrews Tony
Publication year - 1993
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970130715
Subject(s) - karyotype , fetus , prenatal diagnosis , amniocentesis , choroid plexus , biology , amniotic fluid , in utero , pathology , medicine , pregnancy , endocrinology , chromosome , genetics , gene , central nervous system
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.