TY - JOUR
T1 - Increased number of sex chromosomes affects height in a nonlinear fashion
T2 - A study of 305 patients with sex chromosome aneuploidy
AU - Ottesen, Anne Marie
AU - Aksglaede, Lise
AU - Garn, Inger
AU - Tartaglia, Nicole
AU - Tassone, Flora
AU - Gravholt, Claus H.
AU - Bojesen, Anders
AU - Sørensen, Kaspar
AU - Jørgensen, Niels
AU - Meyts, Ewa Rajpert De
AU - Gerdes, Tommy
AU - Lind, Anne Marie
AU - Kjaergaard, Susanne
AU - Juul, Anders
PY - 2010/5
Y1 - 2010/5
N2 - 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.
AB - 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.
KW - Klinefelter syndrome
KW - SHOX copy number
KW - Tall stature
KW - X and Y chromosomes
KW - XXY
UR - http://www.scopus.com/inward/record.url?scp=77951758776&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77951758776&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.33334
DO - 10.1002/ajmg.a.33334
M3 - Article
C2 - 20425825
AN - SCOPUS:77951758776
VL - 152
SP - 1206
EP - 1212
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
SN - 1552-4825
IS - 5
ER -