Anne Marie Ottesen and Lise Aksglaede contributed equally to this work.
Article first published online: 13 APR 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 5, pages 1206–1212, May 2010
How to Cite
Ottesen, A. M., Aksglaede, L., Garn, I., Tartaglia, N., Tassone, F., Gravholt, C. H., Bojesen, A., Sørensen, K., Jørgensen, N., Rajpert-De Meyts, E., Gerdes, T., Lind, A.-M., Kjaergaard, S. and Juul, A. (2010), Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy. Am. J. Med. Genet., 152A: 1206–1212. doi: 10.1002/ajmg.a.33334
How to cite this article: Ottesen AM, Aksglaede L, Garn I, Tartaglia N, Tassone F, Gravholt CH, Bojesen A, Sørensen K, Jørgensen N, Rajpert-De Meyts E, Gerdes T, Lind A-M, Kjaergaard S, Juul A. 2010. Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy. Am J Med Genet Part A 152A:1206–1212.
- Issue published online: 22 APR 2010
- Article first published online: 13 APR 2010
- Manuscript Accepted: 31 DEC 2009
- Manuscript Received: 14 AUG 2009
- Danish Medical Research Council
- Kirsten and Freddy Johansen Foundation
- Aase and Einar Danielsen Foundation
- Danish Diabetes Association
- UC-Davis MIND Institute
- Bonfils-Stanton Foundation
- Klinefelter Syndrome and Associates
- University of Colorado IDDRC
- Klinefelter syndrome;
- SHOX copy number;
- tall stature;
- X and Y chromosomes;
Tall stature and eunuchoid body proportions characterize patients with 47,XXY Klinefelter syndrome, whereas patients with 45,X Turner syndrome are characterized by impaired growth. Growth is relatively well characterized in these two syndromes, while few studies describe the growth of patients with higher grade sex chromosome aneuploidies. It has been proposed that tall stature in sex chromosome aneuploidy is related to an overexpression of SHOX, although the copy number of SHOX has not been evaluated in previous studies. Our aims were therefore: (1) to assess stature in 305 patients with sex chromosome aneuploidy and (2) to determine the number of SHOX copies in a subgroup of these patients (n = 255) these patients and 74 healthy controls. Median height standard deviation scores in 46,XX males (n = 6) were −1.2 (−2.8 to 0.3), +0.9 (−2.2 to +4.6) in 47,XXY (n = 129), +1.3 (−1.8 to +4.9) in 47,XYY (n = 44), +1.1 (−1.9 to +3.4) in 48,XXYY (n = 45), +1.8 (−2.0 to +3.2) in 48,XXXY (n = 9), and −1.8 (−4.2 to −0.1) in 49,XXXXY (n = 10). Median height standard deviation scores in patients with 45,X (n = 6) were −2.6 (−4.1 to −1.6), +0.7 (−0.9 to +3.2) in 47,XXX (n = 40), −0.6 (−1.9 to +2.1) in 48,XXXX (n = 13), and −1.0 (−3.5 to −0.8) in 49,XXXXX (n = 3). Height increased with an increasing number of extra X or Y chromosomes, except in males with five, and in females with four or five sex chromosomes, consistent with a nonlinear effect on height. © 2010 Wiley-Liss, Inc.