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Articles » Aneuploidy » Monosomy X
2007-27-06-10 Turner syndrome © Horenstein
Turner syndrome

Martin Horenstein, MD.



Turners syndrome is a chromosomal anomaly caused by the loss of one sex chromosome resulting in a 45X karyotype. The missing chromosome is usually paternal and syndrome is not related to mothers age. In most cases conceptions with Turner syndrome are spontaneously aborted, however some fetuses persist into second trimester with severe lymphatic obstruction. In early pregnancy it is characterized by large cystic hygroma and lymphangiectasia, leading to fetal hydrops. Following images show a case of the Turner syndrome diagnosed in our department.

Images 1, 2Sagittal and transverse scans showing massive cystic hygroma of the fetus. 


Image 3: Transverse scans through the fetal neck showing massive cystic hygroma.

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