title: Microdeletion 15q26.2qter and Microduplication 18q23 in a Patient with Prader-Willi-Like Syndrome: Clinical Findings.
abstract: The small interstitial deletion in the long arm of chromosome 15 causing Prader-Willi/Angelman syndrome is well known, whereas cases that report terminal deletions in 15q in association with the Prader-Willi-like phenotype are very rare. By using GTG-banding analysis, metaphase FISH, MLPA analysis, and genome-wide array CGH, we detected an unbalanced translocation involving a microdeletion of the distal part of 15q and a microduplication of the distal part of 18q. The unbalanced translocation was found in a boy that was referred with clinical suspicion of Prader-Willi syndrome. In the 15q-deleted region, 23 genes have been identified, and 13 of them are included in the OMIM database. Among these, the deleted IGFR1, MEF2A, CHSY1, and TM2D3 genes could contribute to the patient's phenotype. Seven genes are included in the duplicated chromosome segment 18q, but only one (CTDP1) is present in the OMIM database. We suggest that the deleted chromosome segment 15q26.2qter may be responsible for the phenotype of our case and may also be a candidate locus of Prader-Willi-like syndrome.
authors.affiliation: Dipartimento di Medicina di Laboratorio, Azienda Ospedaliero-Universitaria S. Maria della Misericordia, Udine, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Dello Russo
authors.forename: Eliana
authors.initials: E
authors.lastname: Demori
authors.forename: Annalisa
authors.initials: A
authors.lastname: Sechi
authors.forename: Nadia
authors.initials: N
authors.lastname: Passon
authors.forename: Daniela
authors.initials: D
authors.lastname: Romagno
authors.forename: Chiara
authors.initials: C
authors.lastname: Gnan
authors.forename: Raffaele
authors.initials: R
authors.lastname: Zoratti
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Damante
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D020440:Gene Duplication / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D008423:Maternal Age; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics* / Q000503:physiopathology; D014178:Translocation, Genetic / Q000235:genetics*; D055815:Young Adult