A Case of an Interstitial Tandem .Direct Duplication of Long Arm of Chromosome 4: 46, XY, dup (4) (q25q31.3) de novo
Hiroshima Journal of Medical Sciences 46 巻 3 号
105-108 頁
1997-09 発行
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ファイル情報(添付) | |
タイトル ( eng ) |
A Case of an Interstitial Tandem .Direct Duplication of Long Arm of Chromosome 4: 46, XY, dup (4) (q25q31.3) de novo
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作成者 |
Muraki Koutarou
Katano Ryuji
Hiraki Yoko
Ueda Kazuhiro
Fujita Hiroko
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収録物名 |
Hiroshima Journal of Medical Sciences
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巻 | 46 |
号 | 3 |
開始ページ | 105 |
終了ページ | 108 |
収録物識別子 |
[PISSN] 0018-2052
[EISSN] 2433-7668
[NCID] AA00664312
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抄録 |
We report a 4 2/12-year-old Japanese boy with a de novo direct tandem dup (4) (q25q31.3). The major clinical picture includes postnatal growth and psychomotor retardation, thick eyelashes, a cleft lip, and large and prominent helix and antitragus. He did not have any hearing deficit. His eyegrounds were normal. There was no organ malformations including brain, kidney, liver, pancreas, gallbladder, urinary bladder, stomach, and heart. Routine hematological tests, blood chemistry including thyroid hormones, and urinalysis including urinary screening tests for congenital metabolic disorders showed normal results. He showed an electroencephalographic abnormality which could have resulted from mild aseptic meningitis at 2 months. Our case supports the idea that the association of thumb and renal deformities in duplication 4q syndrome is related to the region 4q22-q23 as many researchers have already pointed out.
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著者キーワード |
Interstitial duplication 4q
Trisomy 4q25q31.3
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NDC分類 |
医学 [ 490 ]
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言語 |
英語
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資源タイプ | 紀要論文 |
出版者 |
Hiroshima University Medical Press
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発行日 | 1997-09 |
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
|