Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy.
Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy.
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DOI：
10.1002/ajmg.a.33334
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发表时间：
2010-05
期刊：
影响因子：
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通讯作者：
Juul A
中科院分区：
文献类型：
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作者：
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 AM;Kjaergaard S;Juul A
47，XXY Klinefelter综合征患者的特点是身材高大，身体比例较高，而45，X Turner综合征患者的特征是生长发育受损。在这两种综合征中，生长发育的特征相对较好，而很少有研究描述具有更高级别的性染色体非整倍体的患者的生长发育。已有研究提出，性染色体非整倍体中的身高与Shox基因的过度表达有关，尽管Shox基因的拷贝数在以往的研究中尚未得到评估。因此，我们的目标是：(1)评估305例性染色体非整倍体患者的身高；(2)测定其中255例患者和74名健康对照的Shox拷贝数。身高标准差中位数−1.2(−2.8~0.3)，+0.9(−2.2~+4.6)47人，XXY(n=129)，+1.3(−1.8~+4.9)47人，XYY(n=44)，+1.1(−1.9~+3.4)48人，XXYY(n=45)，+1.8(−2.0~+3.2)48人，XXXY(n=9)，49，XXXXY(n=10)中−1.8(−4.2~−0.1)。身高标准差中位数：−2.6(−4.1~−1.6)，+0.7(−0.9~+3.2)47例，−4 0例，−0.6(−1.9~+2.1)48例，XXXX(13例)，−1.0(−3.5~−0.8)49例，XXXXX(3例)。身高随着额外X或Y染色体数量的增加而增加，除了具有5条性染色体的男性和具有4条或5条性染色体的女性，这与身高的非线性效应一致。
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.