FISH analysis for apparently simple terminal deletions of the X chromosome: Identification of hidden structural abnormalities
✍ Scribed by Ogata, Tsutomu ;Matsuo, Nobutake ;Fukushima, Yoshimitsu ;Saito, Masakazu ;Nose, Osamu ;Miharu, Norio ;Uehara, Shigeki ;Ishizuka, Bunpei
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 140 KB
- Volume
- 104
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
We report on ¯uorescence in situ hybridization (FISH) analysis in 30 mosaic or nonmosaic females diagnosed as having apparently simple terminal X deletions by standard G-banding analysis. FISH studies for DXZ1, the Xp and Xq telomere regions, and the whole X chromosome painting were carried out for the 30 females, indicating rearranged X chromosomes with signal patterns discordant with terminal deletions in 6 cases: one dic(X)(DXZ1) chromosome, two der(X)(qtel) chromosomes, one XqÀ (qtel) chromosome, and two der(X)(ptel) chromosomes. Additional FISH studies were performed for the 6 cases using probes de®ning 12 loci on the X chromosome, showing large Xp deletion and small Xp duplication in the dic(X)(DXZ1) chromosome, partial Xp deletions and partial Xq duplications in the two der(X)(qtel) chromosomes, an interstitial Xq deletion in the XqÀ (qtel) chromosome, and partial Xq deletions and partial Xp duplications in the two der(X) (ptel) chromosomes. Clinical assessment of the 6 cases revealed tall and normal stature in the two mosaic cases with the der(X)(ptel) chromosomes that were shown to be associated with SHOX duplication. The results suggest that unusual X chromosome rearrangements are often misinterpreted as simple terminal X deletions, and that FISH analysis is useful for precise structural determination and better genotype-phenotype correlation of the X chromosome aberrations.