Tall stature and duplication of the insulin-like growth factor I receptor gene

S. G. Kant; M. Kriek; M. J E Walenkamp; K. B M Hansson; A. van Rhijn; J. Clayton-Smith; J. M. Wit; M. H. Breuning

doi:10.1016/j.ejmg.2006.03.005

Tall stature and duplication of the insulin-like growth factor I receptor gene

S. G. Kant, M. Kriek, M. J E Walenkamp, K. B M Hansson, A. van Rhijn, J. Clayton-Smith, J. M. Wit, M. H. Breuning

Research output: Contribution to journal › Article › peer-review

Abstract

Trisomy of 15q26-qter is frequently associated with tall stature and mental retardation. Here we describe a patient with such trisomy, without a partial monosomy of another chromosome. The tall stature in this patient is most probably caused by duplication of the IGF1R gene. A duplication of the IGF1R gene is not a frequent finding in patients with tall stature. In 38 patients with features of Sotos syndrome without NSD1 alterations, a duplication was found only once. This patient was already known to have an unbalanced 2;15 translocation. Looking for a duplication of the 15qter region is still worth consideration in patients with tall stature and features of Sotos syndrome without an NSD1 alteration, especially when there is craniosynostosis or marked speech delay. © 2006 Elsevier Masson SAS. All rights reserved.

Original language	English
Pages (from-to)	1-10
Number of pages	9
Journal	European journal of medical genetics
Volume	50
Issue number	1
DOIs	https://doi.org/10.1016/j.ejmg.2006.03.005
Publication status	Published - Jan 2007

Keywords

Insulin-like growth factor I receptor gene
Overgrowth
Tall stature
Trisomy 15q26.1-qter

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10.1016/j.ejmg.2006.03.005

Cite this

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title = "Tall stature and duplication of the insulin-like growth factor I receptor gene",

abstract = "Trisomy of 15q26-qter is frequently associated with tall stature and mental retardation. Here we describe a patient with such trisomy, without a partial monosomy of another chromosome. The tall stature in this patient is most probably caused by duplication of the IGF1R gene. A duplication of the IGF1R gene is not a frequent finding in patients with tall stature. In 38 patients with features of Sotos syndrome without NSD1 alterations, a duplication was found only once. This patient was already known to have an unbalanced 2;15 translocation. Looking for a duplication of the 15qter region is still worth consideration in patients with tall stature and features of Sotos syndrome without an NSD1 alteration, especially when there is craniosynostosis or marked speech delay. {\textcopyright} 2006 Elsevier Masson SAS. All rights reserved.",

keywords = "Insulin-like growth factor I receptor gene, Overgrowth, Tall stature, Trisomy 15q26.1-qter",

author = "Kant, {S. G.} and M. Kriek and Walenkamp, {M. J E} and Hansson, {K. B M} and {van Rhijn}, A. and J. Clayton-Smith and Wit, {J. M.} and Breuning, {M. H.}",

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T1 - Tall stature and duplication of the insulin-like growth factor I receptor gene

AU - Kant, S. G.

AU - Kriek, M.

AU - Walenkamp, M. J E

AU - Hansson, K. B M

AU - van Rhijn, A.

AU - Clayton-Smith, J.

AU - Wit, J. M.

AU - Breuning, M. H.

PY - 2007/1

Y1 - 2007/1

N2 - Trisomy of 15q26-qter is frequently associated with tall stature and mental retardation. Here we describe a patient with such trisomy, without a partial monosomy of another chromosome. The tall stature in this patient is most probably caused by duplication of the IGF1R gene. A duplication of the IGF1R gene is not a frequent finding in patients with tall stature. In 38 patients with features of Sotos syndrome without NSD1 alterations, a duplication was found only once. This patient was already known to have an unbalanced 2;15 translocation. Looking for a duplication of the 15qter region is still worth consideration in patients with tall stature and features of Sotos syndrome without an NSD1 alteration, especially when there is craniosynostosis or marked speech delay. © 2006 Elsevier Masson SAS. All rights reserved.

AB - Trisomy of 15q26-qter is frequently associated with tall stature and mental retardation. Here we describe a patient with such trisomy, without a partial monosomy of another chromosome. The tall stature in this patient is most probably caused by duplication of the IGF1R gene. A duplication of the IGF1R gene is not a frequent finding in patients with tall stature. In 38 patients with features of Sotos syndrome without NSD1 alterations, a duplication was found only once. This patient was already known to have an unbalanced 2;15 translocation. Looking for a duplication of the 15qter region is still worth consideration in patients with tall stature and features of Sotos syndrome without an NSD1 alteration, especially when there is craniosynostosis or marked speech delay. © 2006 Elsevier Masson SAS. All rights reserved.

KW - Insulin-like growth factor I receptor gene

KW - Overgrowth

KW - Tall stature

KW - Trisomy 15q26.1-qter

U2 - 10.1016/j.ejmg.2006.03.005

DO - 10.1016/j.ejmg.2006.03.005

M3 - Article

C2 - 17056309

SN - 1769-7212

VL - 50

SP - 1

EP - 10

JO - European journal of medical genetics

JF - European journal of medical genetics

IS - 1

ER -

Tall stature and duplication of the insulin-like growth factor I receptor gene

Abstract

Keywords

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