Molecular cytogenetic identification of four X chromosome duplications

✍ Scribed by Zhang, Aiwu; Weaver, David D.; Palmer, Catherine G.

• Book ID: 101215134
• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 272 KB
• Volume: 68
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19970110)68:1<29::aid-ajmg6>3.0.co;2-t

✦ Synopsis

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 Xchromosome duplications by using a chromosome-specific painting probe. Application of appropriate locus-specific DNA probes as an adjunct to GTG-and RBGbanding 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. Am.