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1995 Fiscal Year Final Research Report Summary

A study of low birth weight infant and uniparetal disomy

Research Project

Project/Area Number 06670799
Research Category

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

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionYamaguchi University

Principal Investigator

TSUKAHARA Masato  Yamaguchi University School of Medicine Department of Pediatrics, Associate professor, 医学部, 助教授 (20136188)

Co-Investigator(Kenkyū-buntansha) TATEISHI Hiroshi  Yamaguchi University School of Medicine Department of Pediatrics, Assistant prof, 医学部・附属病院, 助手 (00253154)
Project Period (FY) 1994 – 1995
KeywordsLow birth weight infant / Uniparental disomy / Chromosomal abnormality / PCR
Research Abstract

1.A total of 7 low birth weight infants (small-for-dates : SFD) were evaluated for chromosomal abnormalities and uniparental disomy. Blood samples from 7 babies and their parents were obtained after informed consent. Chromosome analysis and polymerase chain reaction (PCR) using oligonucleotides were performed. PCR proceeded with oligonucleotides showing repeat sequences from each chromosome as primers and genomic DNA as a template. Neither chromosomal abnormalities nor uniparental disomy was demonstrated in each baby.
2.A total of 12 spontaneous abortuses were also evaluated for the presence of chromosomal abnormalities and uniparental disomy. Of these 12 abortuses, one revealed abnormal karyotype 46, XX,-4, t (4 ; 7) (q35 ; p13) which was derived from paternal balanced translocation 46, XY,t (4 ; 7) (q35 ; p13). No uniparental disomy was detected in each abortus.

  • Research Products

    (15 results)

All Other

All Publications (15 results)

  • [Publications] Tsukahara, M.: "Skeletal manifestations in Fryns syndrome." Am. J. Med. Genet.55. 217-220 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Tsukahara M: "Follow-up study in a patient with setleis syndrome." Am. J. Med. Genet.57. 444-446 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Tsukahara M: "Interstitial deletion of 8P : report of two patiento and review of the literature." Clin. Genet.48. 41-45 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Tsukahara M: "New syndrome Radio-ulnar synostosis, short stature, microdephaly, scoliois, and mental reterdation." Am. J. Med. Genet.58. 159-160 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Tsukahara M: "Jubery-Marsidi syndrome : Report of an additional case" Am. J. Med. Genet.58. 353-355 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Tsukahara M: "Teebi hypertelorism syndrome : Further Obsersations." Am. J. Med. Gent.59. 59-61 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Tsukahara M,Sase M,Tateishi H,Saito T,Kato H,Furukawa S: "Skeletal manifestations in Fryns syndrome." Am J Med Genet. 55. 217-220 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Tsukahara M,Okabe T,Ohtsuka M,Furukawa S: "Follow-up study in a patient with Setleis syndrome." Am J Med Genet. 57. 444-446 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Tsukahara M,Murano I,Aoki Y,Kajii T,Furukawa S: "Interstitial deletion of 8p : report of two patients and review of the literature." Clin Genet. 48. 41-45 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Tsukahara M,Matsuo K,Furukawa S: "New syndrome. Radio-ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation." Am J Med Genet. 58. 159-160 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Tsukahara M,Nasu T,Takihara H,Hattori Y,Nakane H,Kamata K,Mitsui H,Hayashida S: "Juberg-Marsidi syndrome : Report of an additional case." Am J Med Genet. 58. 353-355 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Tsukahara M,Uchida M,Shinohara T: "Teebi hypertelorism syndrome : Further observations." Am J Med Genet. 59. 59-61 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Tsukahara M,Yoshii H,Imamura T,Kamei T,Koga M,Furukawa S: "Desquamative interstitial pneumonia in siblings." Am J Med Genet. 59. 431-434 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Sase M,Tsukahara M,Oga A,Kaneko N,Nakata M,Saito T,Furukawa S,Kato H: "Diffuse cystic renal dysplasdia : nonsyndromic familial case." Am J Med Genet. (in press).

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] "Dubobitz syndrome : review of 141 cases including 36 previously unreported patients." Am J Med Genet. (in press).

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

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Published: 1997-03-04  

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