title: Inv dup(15): contribution to the clinical definition of phenotype.
abstract: One of the primary goals in medical genetics is a precise clinical definition of chromosomal diseases. This is now possible because of the increased number of case reports and new techniques. A male patient, without a clear-cut syndrome, was cytogenetically investigated. Chromosomal analysis showed a small unidentified bisatellited supernumerary marker. In situ hybridization with a biotin-labeled DNA probe for the chromosome 15 centromere (D15Z1) demonstrated that the marker was derived from chromosome 15. Hybridization with the Prader-Willi Syndrome Cosmid biotinylated probe (localized to band 15q11-q13) showed a signal on both ends suggesting a marker with a symmetrical inv dup(15) and a breakpoint localized in q13. It was then possible to define the karyotype as: 47,XY,+ inv dup(15) (pter-q13::q13-pter). All cases of inv dup(15) reported in the literature were reviewed, paying particular attention to the different breakpoints involved, in order to provide a better clinical definition of this syndrome.
authors: Cattedra di Genetica Medica, Università La Sapienza Rome, Italy.
authors: P
authors: P
authors: Grammatico
authors: C
authors: C
authors: Di Rosa
authors: M
authors: M
authors: Roccella
authors: M
authors: M
authors: Falcolini
authors: A
authors: A
authors: Pelliccia
authors: F
authors: F
authors: Roccella
authors: G
authors: G
authors: Del Porto
mesh_terms: D000293:Adolescent; D007446:Chromosome Inversion; D002884:Chromosomes, Human, Pair 15; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D005810:Multigene Family / Q000235:genetics*; D010641:Phenotype