Familial pericentric inversion of chromosome 11 in a child with sporadic unilateral retinoblastoma

Yoshitaka Ohnishi, Mariko Shigeto, Tatsuro Ishibashi, Jouji Hirata

研究成果: Contribution to journalArticle査読

2 被引用数 (Scopus)

抄録

The authors treated a 12-month-old Japanese boy with sporadic unilateral retinoblastoma and hereditary chromosomal inversion inv(ll)(pllq23). This chromosomal inversion was also present in the father of the boy. Cytogenetic analyses of the mother and sister were normal. Retinoblastoma is associated with constitutional deletion of the long arm of chromosome 13. The breakpoint in the chromosome 11q23 region is involved in several malignant hematological diseases, and may be important in malignant transformation. Therefore, a large number of such patients with pericentric inversion of chromosome 11 has to be identified before significance of this chromosomal abnormality can be determined.

本文言語英語
ページ(範囲)281-285
ページ数5
ジャーナルOphthalmic Genetics
11
4
DOI
出版ステータス出版済み - 1 1 1990

All Science Journal Classification (ASJC) codes

  • 小児科学、周産期医学および子どもの健康
  • 眼科学
  • 遺伝学(臨床)

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