Down-Turner Syndrome (45,X/47,XY,+21): Case Report and Review

作者：Ryu Sook Won; Lee Goeun; Baik Cheong Soon; Shim Sung Han; Kim Jin Tack; Lee Jung Soo; Lee Kyung A^*

来源：Korean Journal of Laboratory Medicine, 2010, 30(2): 195-200.

DOI：10.3343/kjlm.2010.30.2.195

• Double aneuploidy
• Down-Turner syndrome
• Mosaicism

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. (Korean J Lab Med 2010;30:195-200)

• 出版日期2010-4