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Inv dup(15): contribution to the clinical definition of phenotype
Author(s) -
Grammatico P.,
Rosa C.,
Roccella M.,
Falcolini M.,
Pelliccia A.,
Roccella F.,
Porto G.
Publication year - 1994
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1994.tb04232.x
Subject(s) - dup , cosmid , marker chromosome , biology , genetics , karyotype , supernumerary , breakpoint , centromere , small supernumerary marker chromosome , chromosome , microbiology and biotechnology , gene duplication , dna , gene , anatomy
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.