| Item type |
デフォルトアイテムタイプ_（フル）(1) |
| 公開日 |
2023-03-18 |
| タイトル |
|
|
タイトル |
A Case of an Interstitial Tandem .Direct Duplication of Long Arm of Chromosome 4: 46, XY, dup (4) (q25q31.3) de novo |
|
言語 |
en |
| 作成者 |
Muraki, Koutarou
Katano, Ryuji
Hiraki, Yoko
Ueda, Kazuhiro
Fujita, Hiroko
|
| アクセス権 |
|
|
アクセス権 |
open access |
|
アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 主題 |
|
|
主題Scheme |
Other |
|
主題 |
Interstitial duplication 4q |
| 主題 |
|
|
主題Scheme |
Other |
|
主題 |
Trisomy 4q25q31.3 |
| 主題 |
|
|
主題Scheme |
NDC |
|
主題 |
490 |
| 内容記述 |
|
|
内容記述 |
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. |
|
言語 |
en |
| 出版者 |
|
|
出版者 |
Hiroshima University Medical Press |
| 言語 |
|
|
言語 |
eng |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
departmental bulletin paper |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 収録物識別子 |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
0018-2052 |
| 収録物識別子 |
|
|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA00664312 |
| 開始ページ |
|
|
開始ページ |
105 |
| 書誌情報 |
Hiroshima Journal of Medical Sciences
Hiroshima Journal of Medical Sciences
巻 46,
号 3,
p. 105-108,
発行日 1997-09
|
| 旧ID |
37825 |
HiroshimaJMedSci_46_105.pdf (411.0 KB)
