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Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy
Author(s) -
Ottesen Anne Marie,
Aksglaede Lise,
Garn Inger,
Tartaglia Nicole,
Tassone Flora,
Gravholt Claus H.,
Bojesen Anders,
Sørensen Kaspar,
Jørgensen Niels,
RajpertDe Meyts Ewa,
Gerdes Tommy,
Lind AnneMarie,
Kjaergaard Susanne,
Juul Anders
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33334
Subject(s) - aneuploidy , short stature , turner syndrome , klinefelter syndrome , chromosome , tall stature , x chromosome , biology , medicine , endocrinology , genetics , gene
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, (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.