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Title: Prader-Willi syndrome: Genetic tests and clinical findings
Authors: Fridman, C.
Varela, M. C.
Kok, F.
Setian, N.
Koiffmann, C. P.
Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Issue Date: 1-Dec-2000
Publisher: Mary Ann Liebert Inc Publ
Citation: Genetic Testing. Larchmont: Mary Ann Liebert Inc Publ, v. 4, n. 4, p. 387-392, 2000.
Abstract: Here we describe the genetic studies performed in 53 patients with the suspected diagnosis of Prader-Willi syndrome (PWS), PWS is characterized by neonatal hypotonia, hypogonadism, delayed psychomotor development, hyperphagia, obesity, short stature, small hands and feet, learning disabilities, and obsessive-compulsive behavior. Through the methylation analysis of the SNRPN gene, microsatellite studies of loci mapped within and outside the PWS/AS region, and fluorescence in situ hybridization (FISH) study, we confirmed the diagnosis in 35 patients: 27 with a paternal deletion, and 8 with maternal uniparental disomy (UPD), the clinical comparisons between deleted and UPD patients indicated that there were no major phenotype differences, except for a lower birth length observed in the UPD children. Our sample was composed of more girls than boys; UPD patients were diagnosed earlier than the deleted cohort (2(10/12) vs. 7(9/12) years); and, in the deleted group, the boys were diagnosed earlier than the girls (5(2/12) vs. 7(8/12) years, respectively).
ISSN: 1090-6576
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