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.
|Original language||English (US)|
|Number of pages||10|
|Journal||American journal of medical genetics|
|State||Published - Jan 10 1997|
- X chromosome
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