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A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes
Author(s) -
Webb T.,
Hardy CA,
King M.,
Watkiss E.,
Mitchell C.,
Cole T.
Publication year - 1998
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.1399-0004.1998.tb02578.x
Subject(s) - marker chromosome , dup , genetics , biology , proband , supernumerary , locus (genetics) , karyotype , genetic marker , small supernumerary marker chromosome , molecular marker , microsatellite , breakpoint , chromosome 15 , microbiology and biotechnology , chromosome , gene , gene duplication , allele , mutation , anatomy
Ten probands with moderate to severe developmental delay were found to have a supernumerary inv dup (15) chromosome. These patients and their families were studied by both cytogenetic and molecular methods. Cytogenetic polymorphisms associated with the 15p short arm suggested a maternal derivation for the marker chromosome in all informative cases. One marker was directly maternally inherited. Molecular analysis employing Southern blotting and polymerase chain reaction (PCR) of microsatellite repeats demonstrated the presence of extra alle‐les in the 15q11q13 region. All ten of the probands demonstrated an extra band at one or more locus without recourse to densitometry. All of the inv dup (15) markers were comparable in size to a G group chromosome but there were differences in the positions of the breakpoints in 15q. There was an inconsistent relationship between marker size, gene dosage and severity of phenotype.