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 o...

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Bibliographic Details
Published in:European journal of medical genetics 2007-01, Vol.50 (1), p.1-10
Main Authors: Kant, S.G, Kriek, M, Walenkamp, M.J.E, Hansson, K.B.M, van Rhijn, A, Clayton-Smith, J, Wit, J.M, Breuning, M.H
Format: Article
Language:English
Subjects:
Biological and medical sciences
Body Height - genetics
Child
Chromosome aberrations
Chromosomes, Human, Pair 15 - genetics
Fundamental and applied biological sciences. Psychology
Gene Duplication
General aspects. Genetic counseling
Genetics of eukaryotes. Biological and molecular evolution
Humans
Hyperplasia - genetics
Infant
Insulin-like growth factor I receptor gene
Medical Education
Medical genetics
Medical sciences
Molecular and cellular biology
Overgrowth
Receptor, IGF Type 1 - genetics
Syndrome
Tall stature
Trisomy - genetics
Trisomy 15q26.1-qter
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Summary: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.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2006.03.005