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1992 Fiscal Year Final Research Report Summary

Molecular cytogenetic study of Kabuki make-up syndrome

Research Project

Project/Area Number 03454500
Research Category

Grant-in-Aid for General Scientific Research (B)

Allocation TypeSingle-year Grants
Research Field Human genetics
Research InstitutionYamaguchi University School of Medicine

Principal Investigator

KAJII Tadashi  Dept.Pediatrics Yamaguchi Univ. School of Medicine, Professor, 医学部, 教授 (40116710)

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)
Project Period (FY) 1991 – 1992
KeywordsTurner syndrome / Kabuki make-up syndrome / ring X / ring Y / X inactivation / XIST
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.

  • Research Products

    (1 results)

All Other

All Publications (1 results)

  • [Publications] Kaji, T, Tsukahara M, Murano I, Matsuura M: "Kabuki make-up-Ullrich-Turner syndrome : Report of 12 patients." Abstract 24th Annual Meeting European Society of Human Genetics. 27-31 (1992)

    • Description
      「研究成果報告書概要(欧文)」より

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Published: 1995-03-27  

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