Down-Turner syndrome (45,X/47,XY,+21): Case report and review

Sook Won Ryu, Goeun Lee, Cheong Soon Baik, Sung Han Shim, Jin Tack Kim, Jung Soo Lee, Kyung A. Lee

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5 Citations (Scopus)


We report the case of a 3-yr-old boy with Down-Turner mosaicism and review the previous reports of Down-Turner syndrome with documented karyotyping and clinical features. The patient showed clinical features of Down syndrome without significant stigma of Turner syndrome. Cytogenetic analysis of peripheral blood preparations by using G-banding revealed mosaicism with 2 cell lines (45,X[29]/47,XY,+21[4]). FISH analysis revealed that 87.5% of the cells had monosomy X karyotype and 12.5% of the cells had XY karyotype; trisomy 21 was only detected in the Y-positive cells. We suggest that additional cells should be analyzed and molecular genetic studies should be conducted to rule out double aneuploidy when karyotypes with sex chromosome aneuploidies and mosaicism are encountered, as in our case of Down syndrome mosaic with sex chromosome aneuploidy.

Original languageEnglish
Pages (from-to)195-200
Number of pages6
JournalKorean Journal of Laboratory Medicine
Issue number2
Publication statusPublished - 2010

All Science Journal Classification (ASJC) codes

  • Clinical Biochemistry
  • Biochemistry, medical


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