Inv dup(15): contribution to the clinical definition of phenotype.
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.
Grammatico
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P
Cattedra di Genetica Medica, Università La Sapienza Rome, Italy.
Di Rosa
C
C
Roccella
M
M
Falcolini
M
M
Pelliccia
A
A
Roccella
F
F
Del Porto
G
G
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