Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy

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Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy. / Ottesen, Anne Marie; Aksglæde, Lise; Garn, Inger; Tartaglia, Nicole; Tassone, Flora; Gravholt, Claus H; Bojesen, Anders; Sørensen, Kaspar; Jørgensen, Niels; Rajpert-De Meyts, Ewa; Gerdes, Tommy; Lind, Anne-Marie; Kjærgaard, Susanne; Juul, Anders.

I: American Journal of Medical Genetics. Part A, Bind 152A, Nr. 5, 2010, s. 1206-12.

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

Harvard

Ottesen, AM, Aksglæde, L, Garn, I, Tartaglia, N, Tassone, F, Gravholt, CH, Bojesen, A, Sørensen, K, Jørgensen, N, Rajpert-De Meyts, E, Gerdes, T, Lind, A-M, Kjærgaard, S & Juul, A 2010, 'Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy', American Journal of Medical Genetics. Part A, bind 152A, nr. 5, s. 1206-12. https://doi.org/10.1002/ajmg.a.33334

APA

Ottesen, A. M., Aksglæde, 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., Kjærgaard, S., & Juul, A. (2010). Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy. American Journal of Medical Genetics. Part A, 152A(5), 1206-12. https://doi.org/10.1002/ajmg.a.33334

CBE

Ottesen AM, Aksglæde L, Garn I, Tartaglia N, Tassone F, Gravholt CH, Bojesen A, Sørensen K, Jørgensen N, Rajpert-De Meyts E, Gerdes T, Lind A-M, Kjærgaard S, Juul A. 2010. Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy. American Journal of Medical Genetics. Part A. 152A(5):1206-12. https://doi.org/10.1002/ajmg.a.33334

MLA

Vancouver

Ottesen AM, Aksglæde L, Garn I, Tartaglia N, Tassone F, Gravholt CH o.a. Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy. American Journal of Medical Genetics. Part A. 2010;152A(5):1206-12. https://doi.org/10.1002/ajmg.a.33334

Author

Ottesen, Anne Marie ; Aksglæde, Lise ; Garn, Inger ; Tartaglia, Nicole ; Tassone, Flora ; Gravholt, Claus H ; Bojesen, Anders ; Sørensen, Kaspar ; Jørgensen, Niels ; Rajpert-De Meyts, Ewa ; Gerdes, Tommy ; Lind, Anne-Marie ; Kjærgaard, Susanne ; Juul, Anders. / Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy. I: American Journal of Medical Genetics. Part A. 2010 ; Bind 152A, Nr. 5. s. 1206-12.

Bibtex

@article{17a8bb50568411df9806000ea68e967b,
title = "Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy",
abstract = "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.",
author = "Ottesen, {Anne Marie} and Lise Aksgl{\ae}de and Inger Garn and Nicole Tartaglia and Flora Tassone and Gravholt, {Claus H} and Anders Bojesen and Kaspar S{\o}rensen and Niels J{\o}rgensen and {Rajpert-De Meyts}, Ewa and Tommy Gerdes and Anne-Marie Lind and Susanne Kj{\ae}rgaard and Anders Juul",
note = "Copyright 2010 Wiley-Liss, Inc.",
year = "2010",
doi = "10.1002/ajmg.a.33334",
language = "English",
volume = "152A",
pages = "1206--12",
journal = "American Journal of Medical Genetics. Part A",
issn = "1552-4825",
publisher = "JohnWiley & Sons, Inc.",
number = "5",

}

RIS

TY - JOUR

T1 - Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy

AU - Ottesen, Anne Marie

AU - Aksglæde, Lise

AU - Garn, Inger

AU - Tartaglia, Nicole

AU - Tassone, Flora

AU - Gravholt, Claus H

AU - Bojesen, Anders

AU - Sørensen, Kaspar

AU - Jørgensen, Niels

AU - Rajpert-De Meyts, Ewa

AU - Gerdes, Tommy

AU - Lind, Anne-Marie

AU - Kjærgaard, Susanne

AU - Juul, Anders

N1 - Copyright 2010 Wiley-Liss, Inc.

PY - 2010

Y1 - 2010

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.

U2 - 10.1002/ajmg.a.33334

DO - 10.1002/ajmg.a.33334

M3 - Journal article

C2 - 20425825

VL - 152A

SP - 1206

EP - 1212

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

SN - 1552-4825

IS - 5

ER -