Molecular cytogenetic identification of four X chromosome duplications.
Four cases with previously unidentified X-chromosome abnormalities were studied by standard cytogenetic techniques and FISH in order to demonstrate the origin of the extra segment on the abnormal X chromosomes. All cases were identified as X-chromosome duplications by using a chromosome-specific painting probe. Application of appropriate locus-specific DNA probes as an adjunct to GTG- and RBG-banding proved useful in defining the breakpoints and the extent of the duplications. Although the duplicated X chromosome in female cases was selectively inactivated, as demonstrated by its late-replicating pattern, abnormal clinical findings were manifested in 3 female patients.
Zhang
A
A
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA.
Weaver
D D
DD
Palmer
C G
CG
D000328:Adult; D002675:Child, Preschool; D002871:Chromosome Banding; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D017422:Sequence Analysis, DNA; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome