A Clinical and Cytogenetic Study of Institutionalized Mental Retardates
Hiroshima Journal of Medical Sciences 39 巻 2 号
39-56 頁
1990-06 発行
アクセス数 : 657 件
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この文献の参照には次のURLをご利用ください : https://ir.lib.hiroshima-u.ac.jp/00038059
| ファイル情報(添付) | |
| タイトル ( eng ) |
A Clinical and Cytogenetic Study of Institutionalized Mental Retardates
|
| 作成者 |
Kumada Toshio
|
| 収録物名 |
Hiroshima Journal of Medical Sciences
|
| 巻 | 39 |
| 号 | 2 |
| 開始ページ | 39 |
| 終了ページ | 56 |
| 収録物識別子 |
[PISSN] 0018-2052
[EISSN] 2433-7668
[NCID] AA00664312
|
| 抄録 |
One hundred and four out of 110 patients in a residential institution for mental retardates were examined clinically and cytogenetically. Both conventional and folate deficient media were employed in order to detect both conventional chromosomal abnormalities and rare fragile sites. Conventional abnormalities were detected in 18 cases (17%). Rare folate sensitive fragile site at 2q13 was detected in one female patient. The same chromosomal aberration was also detected in the patient's mother who had a normal phenotype. Spontaneous expression of the rare fragile site at 2q13 was also observed.
|
| 著者キーワード |
Chromosome abnormality
Mental retardation
Fragile site
|
| NDC分類 |
医学 [ 490 ]
|
| 言語 |
英語
|
| 資源タイプ | 紀要論文 |
| 出版者 |
Hiroshima University Medical Press
|
| 発行日 | 1990-06 |
| 出版タイプ | Version of Record（出版社版。早期公開を含む） |
| アクセス権 | オープンアクセス |
| 収録物識別子 |
[ISSN] 0018-2052
[NCID] AA00664312
[PMID] 2228726
|
