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Athanatos D, Tsakalidis C, Tampakoudis GP, et al. Embryo with XYY syndrome presenting with clubfoot: a case report. Cases J. 2009;2:8404doi: 10.4076/1757-1626-2-8404.
Athanatos, D., Tsakalidis, C., Tampakoudis, G. P., Papastergiou, M. N., Tzevelekis, F., Pados, G., & Assimakopoulos, E. A. (2009). Embryo with XYY syndrome presenting with clubfoot: a case report. Cases journal, 28404. https://doi.org/10.4076/1757-1626-2-8404
Athanatos, Dimitrios, et al. "Embryo with XYY syndrome presenting with clubfoot: a case report." Cases journal vol. 2 (2009): 8404. doi: https://doi.org/10.4076/1757-1626-2-8404
Athanatos D, Tsakalidis C, Tampakoudis GP, Papastergiou MN, Tzevelekis F, Pados G, Assimakopoulos EA. Embryo with XYY syndrome presenting with clubfoot: a case report. Cases J. 2009 Sep 01;2:8404. doi: 10.4076/1757-1626-2-8404. PMID: 19918427; PMCID: PMC2769437.
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Cases J. 2009 Sep 01;2:8404. doi: 10.4076/1757-1626-2-8404.

Embryo with XYY syndrome presenting with clubfoot: a case report.

Cases journal

Dimitrios Athanatos, Christos Tsakalidis, George P Tampakoudis, Maria N Papastergiou, Fillipos Tzevelekis, George Pados, Efstratios A Assimakopoulos

Affiliations

  1. First Department of Obstetrics and Gynaecology, Aristotle University of Thessaloniki, ‘Papageorgiou’ Hospital, Thessaloniki, Greece. [email protected]

PMID: 19918427 PMCID: PMC2769437 DOI: 10.4076/1757-1626-2-8404

Abstract

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.

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