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Korean J Lab Med. 2010 Apr;30(2):195-200. Korean. Case Report. https://doi.org/10.3343/kjlm.2010.30.2.195
Ryu SW , Lee G , Baik CS , Shim SH , Kim JT , Lee JS , Lee KA .
Department of Laboratory Medicine, Kangwon National University School of Medicine, Chuncheon, Korea.
SamKwang Medical Laboratories, Seoul, Korea.
Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, Seoul, Korea.
Department of Pediatric Allergy & Pneumology, Uijeongbu St. Mary's Hospital, College of Medicine, The Catholic University, Uijeongbu, Korea. kal1119@yuhs.ac
Department of Rehabilitation Medicine, Uijeongbu St. Mary's Hospital, College of Medicine, The Catholic University, Uijeongbu, Korea.
Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea. kal1119@yuhs.ac
Abstract

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.

Copyright © 2019. Korean Association of Medical Journal Editors.