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Mosaic male fetus of Turner syndrome with partial chromosome Y: A case report
Author(s) -
Xue Dan,
Cao DongHua,
Mu Kai,
Lv Yuan,
Yang Jun
Publication year - 2018
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1111/jog.13617
Subject(s) - turner syndrome , fetus , monosomy , testis determining factor , medicine , x chromosome , karyotype , fluorescence in situ hybridization , y chromosome , gynecology , obstetrics , chromosome , pregnancy , genetics , biology , gene
Abstract Turner syndrome, characterized by the presence of a monosomy X cell line, is a common chromosomal disorder. Patients with Turner syndrome are usually phenotypically female, and male cases are rarely reported. Here, we report a fetus with a mosaic karyotype: mos 45,X/46,X,del(Y)(q11.21). The fetus was initially misdiagnosed as female with Turner syndrome by both noninvasive prenatal testing and cytogenetic analysis of amniotic fluid and was subsequently found to have male anatomy by antenatal ultrasonography at 24 weeks gestational age. Through single nucleotide polymorphism‐array and fluorescence in situ hybridization testing, we found that there was a truncated Y chromosome with sex‐determining region Y ( SRY ) present in some cells of the fetus, which caused the male features in the fetus.