| Co-Investigator(Kenkyū-buntansha) |
KUWANO Akira Dept.Pediatrics Yamaguchi Univ. School of Medicine, Assistant, 医学部, 助手 (30205265)
MURANO Ichiro Dept.Pediatrics Yamaguchi Univ. School of Medicine, Assistant, 医学部・付属病院, 助手 (20200305)
TSUKUHARA Masato Dept.Pediatrics Yamaguchi Univ. School of Medicine, Lecturer, 医学部, 講師 (20136188)
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| Budget Amount *help |
¥5,500,000 (Direct Cost: ¥5,500,000)
Fiscal Year 1992: ¥2,000,000 (Direct Cost: ¥2,000,000)
Fiscal Year 1991: ¥3,500,000 (Direct Cost: ¥3,500,000)
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| Research Abstract |
1) A total of 12 patients with Kabuki make-up-Turner syndrome was studied : 7 patients were with typical manifestations of the Kabuki make-up syndrome, whilst the other 5 patients showed atypical manifestations. The 7 patients included 6 cases of 45, X/46, X,small r(X or Y) and a case of 46, X,Xp-. The other 5 patients included 2 cases of 45, X/46, X,i(X) and one case each of 45, X ; 45, X/46, X,i(X)/47, X,(X), (X), and 45, X/46, X,large r(X).
2) Centromeric FISH studies indicated 4 ring chromosomes to be of X chromosomal origin, whereas one was Y chromosomal. XIST expression as studied with RT-PCR was positive in 3 of 3 ring Xs studied. BrdU replication studies in small ring Xs were inconclusive.
In view of these findings, patients with small ring (X or Y) are likely to manifest the clinical features of the Kabuki make-up syndrome. Their ring Xs are inactivated in at least a portion of their cells. This, however, dose not exclude the possibility that the small ring Xs remain active in a portion of cells to be responsible for the phenotype.
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