Tall stature and duplication of the insulin-like growth factor I receptor gene.
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.
Kant
S G
SG
Department of Clinical Genetics, CHCG, Leiden University Medical Center, Leiden, The Netherlands. s.g.kant@lumc.nl
Kriek
M
M
Walenkamp
M J E
MJ
Hansson
K B M
KB
van Rhijn
A
A
Clayton-Smith
J
J
Wit
J M
JM
Breuning
M H
MH
D001827:Body Height / Q000235:genetics*; D002648:Child; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D020440:Gene Duplication; D006801:Humans; D006965:Hyperplasia / Q000235:genetics; D007223:Infant; D017526:Receptor, IGF Type 1 / Q000235:genetics*; D013577:Syndrome; D014314:Trisomy / Q000235:genetics
D017526:Receptor, IGF Type 1