Journal homepage
Editorial board
Contact: miluse.volterova@lfp.cuni.cz
Distribution: Ilona.Baxova@lfp.cuni.cz
PLZEŇSKÝ LÉKAŘSKÝ SBORNÍK, Vol 2018 No 84 (2018), 117–120
Lériho-Weillův syndrom na podkladě strukturní aberace chromosomu Y (kazuistika)
[Léri-Weill syndrome on the principle of structural aberration of chromosome Y (Case Report)]
M. Hejnalová, P. Vohradská, R. Pomahačová, R. Jaklová, V. Drahokoupilová, M. Kopřivová, L. Milichovská, T. Zavoral, M. Černá, I. Šubrt
published online: 12. 12. 2018
abstract
Molecular-genetic testing of the SHOX gene is routinely available in the Czech Republic and it should be indicated by pediatricians in advance before the end of growth, when growth hormone treatment is still possible in patients. Deletion/duplication was demonstrated by the MLPA method as the cause of Léri-Weill’s syndrome/idiopathic small stature in approximately 5 % of patients (n = 103) undergoing molecular-genetic testing. If hormone disorders and chronic diseases are excluded in children with growth retardation, molecular-genetic examination of the SHOX gene should be performed.
