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Perinatal diagnosis of a fetus with an unbalanced translocation 46,XY,der(10)t(6;10)(p22;q26.1) with multiple malformations: a case report and literature review
https://fmu.repo.nii.ac.jp/records/2002024
https://fmu.repo.nii.ac.jp/records/2002024685c203f-738e-4bef-b6b2-c3816b28a982
| 名前 / ファイル | ライセンス | アクション |
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FksmJMedSci_67_p83.pdf (353.1 KB)
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| Item type | デフォルトアイテムタイプ（フル）fmu(1) | |||||||||||||||||||||
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| 公開日 | 2021-09-01 | |||||||||||||||||||||
| タイトル | ||||||||||||||||||||||
| タイトル | Perinatal diagnosis of a fetus with an unbalanced translocation 46,XY,der(10)t(6;10)(p22;q26.1) with multiple malformations: a case report and literature review | |||||||||||||||||||||
| 言語 | en | |||||||||||||||||||||
| 作成者 |
Ishibashi, Makiho
× Ishibashi, Makiho
× Watanabe, Takafumi
× Kyozuka, Hyo
× Yamaguchi, Akiko
× Sato, Kenichi
× Sato, Maki
× Go, Hayato
× Fujimori, Keiya
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| 権利情報 | ||||||||||||||||||||||
| 権利情報Resource | https://creativecommons.org/licenses/by-nc-sa/4.0/ | |||||||||||||||||||||
| 権利情報 | © 2021 The Fukushima Society of Medical Science. This article is licensed under a Creative Commons [Attribution-NonCommercial-ShareAlike 4.0 International] license. | |||||||||||||||||||||
| 内容記述 | ||||||||||||||||||||||
| 内容記述タイプ | Abstract | |||||||||||||||||||||
| 内容記述 | The phenotype of an unbalanced translocation is characterized by the dosage effects of the affected genes in the translocated chromosome. We present the case of a fetus with a paternally derived unbalanced 46,XY,der(10)t(6;10)(p22;q26.1) translocation, detected following growth retardation and cardiac malformation. In trisomy 6p and 10q26 monosomy, external surface malformations, including characteristic facial abnormalities, and neurological or higher effects have been reported. Developmental delay and hypotonia are reported in ≤ 80% of cases of 10q monosomy. Herein, low birth weight, cephalic abnormalities including microcephaly, low-set ears and a high arched palate, ambiguous genitalia including scrotal hypoplasia and cryptorchidism, and congenital heart defects, including ventricular septal defect and pulmonary atresia, were observed. Neurological impact was not evaluated due to neonatal death. The mortality rate and frequency of low birth weight in such translocations has been seldom reported. In this case, severe cardiac malformation and low birth weight may have caused early neonatal death. Whilst Trisomy 6 is associated with low birth weight and perinatal death, few studies have reported these outcomes in 10q26 deletion syndrome. Our findings therefore contribute to the evidence base regarding unbalanced translocations and may improve the clinical management of such patients. | |||||||||||||||||||||
| 出版者 | ||||||||||||||||||||||
| 出版者 | The Fukushima Society of Medical Science | |||||||||||||||||||||
| 言語 | ||||||||||||||||||||||
| 言語 | eng | |||||||||||||||||||||
| 書誌情報 |
en : Fukushima Journal of Medical Science 巻 67, 号 2, p. 83-88, 発行日 2021 |
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| 関連タイプ | isIdenticalTo | |||||||||||||||||||||
| 識別子タイプ | DOI | |||||||||||||||||||||
| 関連識別子 | https://doi.org/10.5387/fms.2020-28 | |||||||||||||||||||||
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| 識別子タイプ | PMID | |||||||||||||||||||||
| 関連識別子 | 33994433 | |||||||||||||||||||||
| 関連情報 | ||||||||||||||||||||||
| 識別子タイプ | ICHUSHI | |||||||||||||||||||||
| 関連識別子 | 2022174540 | |||||||||||||||||||||
| 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 | journal article | |||||||||||||||||||||
| 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 | PISSN | |||||||||||||||||||||
| 収録物識別子 | 0016-2590 | |||||||||||||||||||||
| 収録物識別子 | ||||||||||||||||||||||
| 収録物識別子タイプ | EISSN | |||||||||||||||||||||
| 収録物識別子 | 2185-4610 | |||||||||||||||||||||
| 収録物識別子 | ||||||||||||||||||||||
| 収録物識別子タイプ | NCID | |||||||||||||||||||||
| 収録物識別子 | AA0065246X | |||||||||||||||||||||
| 主題 | ||||||||||||||||||||||
| 主題Scheme | Other | |||||||||||||||||||||
| 主題 | congenital heart disease | |||||||||||||||||||||
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| 主題Scheme | Other | |||||||||||||||||||||
| 主題 | multiple malformations | |||||||||||||||||||||
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| 主題Scheme | Other | |||||||||||||||||||||
| 主題 | perinatal diagnosis | |||||||||||||||||||||
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| 主題Scheme | Other | |||||||||||||||||||||
| 主題 | severe fetal growth restriction | |||||||||||||||||||||
| 主題 | ||||||||||||||||||||||
| 主題Scheme | Other | |||||||||||||||||||||
| 主題 | unbalanced translocation | |||||||||||||||||||||
