Embryo with XYY syndrome presenting with clubfoot: a case report.
Talipes equinovarus (clubfoot) is a skeletal anomaly of the embryo's legs, with a frequency of 1-3:1000 living born babies. It may occur as an independent anomaly, or as part of a syndrome with concomitant chromosomal abnormalities.XYY syndrome is a quite rare sex chromosomal abnormality with 47, XYY karyotype. Prenatal diagnosis is usually accidental because the syndrome is not associated with increased prevalence of sonographically detectable defects. The possibility of co-existence of skeletal anomalies in embryos with 47, XYY karyotype is scant, with only a few cases reported in the literature.An amniocentesis was performed in an embryo at the 21(st) week of gestation because clubfoot was detected in the 2(nd) trimester scan, and the embryo was found to have abnormal karyotype of 47, XYY. Current opinions and management dilemmas are discussed.
Athanatos
Dimitrios
D
First Department of Obstetrics and Gynaecology, Aristotle University of Thessaloniki, ‘Papageorgiou’ Hospital, Thessaloniki, Greece. dimitriosathanatos@hotmail.com
Tsakalidis
Christos
C
Tampakoudis
George P
GP
Papastergiou
Maria N
MN
Tzevelekis
Fillipos
F
Pados
George
G
Assimakopoulos
Efstratios A
EA