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Ryu, Lee, Baik, Shim, Kim, Lee, and Lee: Down-Turner Syndrome (45,X/47,XY,+21): Case Report and Review
Case Report

Korean J Leg Med 2010;30(2):195-200.

Published online: 14 January 2010

DOI: https://doi.org/10.3343/kjlm.2010.30.2.195

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

Sook-Won Ryu, M.D.1, Goeun Lee, M.D.2, Cheong Soon Baik, Ph.D.2, Sung Han Shim, Ph.D.3, Jin-Tack Kim, M.D.4, Jung-Soo Lee, M.D.5, Kyung-A Lee, M.D.6

1Department of Laboratory Medicine, Kangwon National University School of Medicine, Chuncheon, Korea

2SamKwang Medical Laboratories, Seoul, Korea

3Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, Seoul, Korea

4Departments of Pediatric Allergy & Pneumology and Rehabilitation Medicine, Seoul, Korea

5Uijeongbu St. Mary's Hospital, College of Medicine, The Catholic University, Uijeongbu, Seoul, Korea

6Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea

Corresponding authors: Kyung-A Lee, M.D. Department of Laboratory Medicine, Yonsei University College of Medicine, Gangnam Severance Hospital, 712 Eonju-ro, Gangnam-gu, Seoul 135-720, Korea Tel: +82-2-2019-3531, Fax: +82-2-3462-9483 E-mail: kal1119@yuhs.ac

Jin-Tack Kim, M.D. Department of Pediatric Allergy & Pneumology, Uijeongbu St. Mary's Hospital, College of Medicine, The Catholic University of Korea, 65-1 Geumo-dong, Uijeongbu 480-130, Korea Tel: +82-31-820-3017, Fax: +82-31-821-3108 E-mail: jintackk@catholic.ac.kr

      Revised 2 December 200910 March 2010       Accepted 22 March 2010

Copyright © 2010 Korean Society for Legal Medicine

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

Keywords: Double aneuploidy, Down-Turner syndrome, Mosaicism

REFERENCES

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Fig. 1.
The G-banded karyotype of the patient showing mosaic double aneuploidy with a loss of Y chromosome (A) and addition of chromosome 21 (B) (arrows); 45,X[29]/47,XY,+21[4].
kjlm-30-195f1.tif
Fig. 2.
FISH analysis with centromeric X (DXZ1; spectrum green) and centromeric Y (DYZ3; spectrum red) probes showing one 46,XY metaphase and five X interphases with one green signal indicating monosomy X.
kjlm-30-195f2.tif
Fig. 3.
FISH analysis with CEP Y probe specific for Y chromosome (DYZ1; spectrum green) and DNA LSI probe specific for chromosome 21 (D21S259, D21S341, and D21S342; spectrum red) revealed that only those cells with a Y chromosome (green signal) show trisomy 21 (triplicate red signals).
kjlm-30-195f3.tif
Table 1.
Previously reported cases of Down-Turner syndrome: clinical features and cytogenetic findings, including those of the present case
Case No. Year Author Karyotype Genitalia Phenotype Reference
1 1951 Villaverde Not done   Down-Turner [7]
2 1951 Villaverde Not done   Down-Turner [7]
3 1960 Hanhardt et al. Not done   Down [7]
4 1962 Medenis et al. 46,X,+G/47,XX,+G, F Down∗ [7, 8, 13]
5 1964 Van Wijck et al. 46,X,+G/47,XX,+G F Down [7, 8, 13]
6 1964 Zergollern et al. 46,X,+G/47,XX,+G/48,XXX,+G F Down [7, 13]
7 1964 Root et al. 46,X,+G/47,XX,+G F Down∗ [7, 8, 13]
8 1965 Candela et al. 46,XX/46,X,+G F Down [7]
9 1966 Candela et al. 46,X,+G/47,XX,+G F Down∗ [7, 8, 13]
10 1966 Feiertag-Koppen et al. 45,X/46,X,+G/46,XX/47,XX,+G F Down [8]
11 1966 Edgren et al. 45,X/46,XY/47,XY,+21 M Down [8]
12 1967 van Gelderen et al. 46,X,+G/46,XX/47,XX,+G F Down-Turner [8]
13 1968 Pfeiffer et al. 46,X,+21/47,XX,+21 F Down [7, 8]
14 1970 Taylor et al. 45,X/47,XX,+G F Down-Turner [8]
15 1971 Luthardt et al. 47,X,Xq-,+21 F Down [8]
16 1971 Grosse et al. 46,XX/45,X/47,XX,+G F Down [7, 8, 13]
17 1972 Cohen et al. 45,X/47,XX,+21 F Down [13]
18 1971 Mikel'saar et al. 47,XX,+21/47,XXp-q-,+21 F Down-Turner [7, 13]
19 1972 Prieur et al. 45,X/47,XY,+21 M Down [8]
20 1973 barakat et al. 45,X/47,XX,+G F Down [8]
21 1974 Hustinx et al. 45,X/47,XX,+21 F Down∗ [7, 8, 13]
22 1974 Hustinx et al. 45,X/47,XY,+21 M Down-Turner [8]
23 1974 Santos et al. 46,X,+21/47,XY,+21 A Down-Turner [8]
24 1975 Osborne et al. 45,X/46,X,+G/46,XX/47,XX,+G F Down-Turner [15]
25 1975 Villaverde et al. 45,X/46,X,+G/47,XX,+G A Down-Turner∗ [7, 8, 13]
26 1975 Townes et al. 45X/46,X,+21 F Down-Turner [7, 8, 13]
27 1975 Singh et al. 45,X/46,X,+G/46,XX/47,XX,+G F Down∗ [7, 8, 13]
28 1975 Singh et al. 45,X/46,X,+G/46,XX/47,XX,+G F Down∗ [7, 8, 13]
29 1975 Singh et al. 46,X,+21/46,XX/47,XX,+21 F Down∗ [7, 8, 13]
30 1976 Yeung et al. 46,X,+21/47,XY,+21 A Down-Turner [8]
31 1977 Martsolf et al. 47,X,del(X)(p11),+21 F Down-Turner [7, 13]
32 1978 Chen et al. 45,X/48,XXX,t(2;21) F Down [13]
33 1980 Sparagana et al. 45,X/46,XY/47,XY,+21 M Down [11]
34 1981 Macfual et al. 46,X,+21/47,X,i(X),+21 F Down∗ [7, 8, 13]
35 1981 Macfual et al. 46,X,+21/47,XX,+21 F Down-Turner [7, 8, 13]
36 1981 Gatrad et al. 46,X,+21/47,XX,+21 F Down-Turner [7, 8, 13]
37 1989 Ikonen et al. 46,X,+21 F Down [13]
38 1991 Jansen et al. 45,X/47,XX,+21 F Down-Turner∗ [7, 13]
39 1994 Van buggenhout et al. 45,X/46,X,+21/47,XY,+21 M Down-Turner [8]
40 1994 Digilio et al. 45,X/46,XX,i(21q) F Down-Turner [13]
41 1995 Jarurantanasirikul et al. 46,X,+21 F Down [7]
42 1993 Ruangdaraganon et al. 46,X,+21 F Down [13]
43 1998 Harada et al. 45,X/47,XX,+21 F Down-Turner [16]
44 2001 Musarella et al. 45,X/47,XX,+21/46,XX/47,XXX F Down [13]
45 2005 Zaki et al. 45,X/47,XY,+21 M Down-Turner [9]
46 2005 Zaki et al. 46,X,+21/47,XX,+21 F Down-Turner [9]
47 2009 Lee et al. 45,X/47,XY,+21 M Down Present case

∗ Clinical features are not consistent in the cases presented in these reports [7, 8, 13].

Abbreviations: A, ambiguous; F, female; G, chromosome group G; M, male.

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