A chromosomal study on 22 cases of congenital neural tube defects

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概要

• 論文の詳細を見る

• A chromosomal study was conducted on 22 cases of congenital neural tube defects, including 20 cases of spina bifida and 2 of cranioschisis. Out of the 22 cases, 18 cases had normal karyotypes, 2 had normal variations, and 2 had abnormal karyotypes. Abnormal karyotypes were identified as 46, XY, del(2) (q35q36) and 46, XY, ins(22)(p13;p11.2p11.2)mat. Both were the cases of spina bifida. Chromosomal Fragile sites were investigated on 20 cases. In 13 of the 20 cases fragile sites were found at 15 different sites. These sites were all common fragile ones, and no cases showing folic acid sensitive heritable fragile sites were found.

• 財団法人染色体学会の論文

著者

• Watanabe Yoko

  角谷医学研究所

• Watanabe Yoko

  The Kadotani Med. Res. Found.

• Saito Toshihide

  Department of Pediatrics, Hiroshima Prefectural Rehabilitation Center for the Disabled

• Kadotani Tetsuji

  The Kadotani Medical Research Foundation

• SAITO Toshihide

  Dep.Pediatr., Hiroshima Prefectural Rehabilitation Center

• SAWANO Kunihiko

  Dep.Pediatr., Hiroshima Prefectural Rehabilitation Center

• Minatozaki Kazunori

  Department of Pediatrics, Hiroshima Prefectural Rehabilitation Center

• Sawano Kunihiko

  Department of Pediatrics, Hiroshima Prefectural Rehabilitation Center

• Kadotani Tetsuji

  The Kadotani Med. Res. Found.

• Kadotani Tetsuji

  The Kadotani Med. Res. Found

• Minatozaki Kazunori

  Department Of Pediatrics Hiroshima Prefectural Rehabilitation Center

• Sawano Kunihiko

  Dep.pediatr. Hiroshima Prefectural Rehabilitation Center

• Saito Toshihide

  Dep.pediatr. Hiroshima Prefectural Rehabilitation Center

• Sawano Kunihiko

  Department Of Pediatrics Hiroshima Prefectural Rehabilitation Center

• Watanabe Yoko

  The Kadotani Med. Res. Found

関連論文

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• 37. A chromosome study on congenital central nervous anomaly(Abstracts of the 50th Annual Meeting of the Society of Chromosome Research)
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• A chromosomal study on 22 cases of congenital neural tube defects
• A chromosome study on cerebral cortical dysplasia(Abstracts of the 48th Annual Meeting of the Society of Chromosome Research)
• A case of reciprocal translocation (3p;11q) and inversion (3p)(Abstracts of the 48th Annual Meeting of the Society of Chromosome Research)
• THERMOGRAPHIC FINDINGS OF INFANTS WITH CEREBRAL PALSY
• Medical chromosomal analyses(Abstracts of the 49th Annual Meeting of the Society of Chromosome Research)
• Chromosomal fragile sites in the parents and their babies
• 32. Chromosome studies on uterine liomyoma tissue(Abstracts of the 50th Annual Meeting of the Society of Chromosome Research)
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• A case of mental retardation having pericentric inversion on No. 9 chromosome (inv(9)(p11q13)).
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• A case of marker chromosome mosaicism with mental retardation.
• A chromosomal study on 61 cases with mental retardation.
• An additional case of partial trisomy for the No. 15 chromosome.
• A case of mosaic ring chromosome No. 22 with the mental retardation.
• A 45, X/46, XY, del(Y)(q11) mosaicism in a phenotypically normal male adult.
• Elongated long arm of No. 1 chromosome in heavy mental retardates.
• A case with the interstitial deletion of the long arm of no. 5 chromosome.
• A case of down's syndrome with primary hypothyroidism.
• A chromosomal aberrations on senile dementia.
• A case of a ring chromosome No. 22 with mental retardation.
• A chromosomal study on 56 cases with heavy mental retardation and behavior disorders.
• The effect of caffeine on the fragile sites in newborns.
• Elongated long arm of No. 9 chromosome in heavy mental retardates.
• A chromosome study of the patients with heavy mental retardation.
• A case of partial monosomy for the long arm of the no. 9 chromosome.
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• A Case of Partial Trisomy for the Long Arm of the X Chromosome
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• Clinical and cytogenetic features of a case with trisomy 22.
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• A case of partial 9q trisomy.
• A case of partial monosomy for the short arm of the chromosome No. 9.
• A Case with a Long Arm Duplication of the No. 3 Chromosome
• A chromosome study of the congenital defectives and their relatives seeking genetic advices.
• A case of partial trisomy for the short arm of chromosome 9.
• Two siblings with the XY-female having heavy mental retardation from the parent with the normal phenotype.
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