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Genetic counseling for trisomy X syndrome diagnosed by amniocentesis: a case report
http://hdl.handle.net/10069/40045
http://hdl.handle.net/10069/400454ea7f188-89bb-45cf-87c9-2c712ed4092c
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
ActMed64_31.pdf (584.6 kB)
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| Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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| 公開日 | 2020-06-17 | |||||
| タイトル | ||||||
| タイトル | Genetic counseling for trisomy X syndrome diagnosed by amniocentesis: a case report | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | trisomy X syndrome | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | chromosome abnormality | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | genetic counseling | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | perinatal diagnosis | |||||
| 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 | |||||
| 著者 |
Hasegawa, Yuri
× Hasegawa, Yuri× Miyata, Mikako× Miura, Shoko× Nagata, Ai× Tomonaga, Chiharu× Shigetomi, Noriko× Miura, Kiyonori |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | [Introduction] Trisomy X is a sex chromosome abnormality that occurs in approximately 1 in 1,000 female births. We provided genetic counseling to a pregnant woman and her husband following the prenatal diagnosis of trisomy X by amniocentesis. [Case] A 27-year-old pregnant woman, gravida 2, para 1, underwent a prenatal checkup by her general practitioner. Nuchal translucency (NT) of 3.4 mm was detected in the fetus at 11 weeks of gestation and had disappeared by 12 weeks of gestation. The pregnant woman and her husband consulted our unit for genetic counseling at 13 weeks of gestation. Although we did not detect any NT or other abnormality in the fetus, the parents were concerned about possible abnormalities and requested amniocentesis. Amniocentesis followed by chromosomal analysis at 16 weeks of gestation revealed a 47, XXX karyotype. We explained the results and characteristics of trisomy X to the couple. The frequency of trisomy X is 1 in 1,000, and it can be characterized by tall stature, developmental delay, learning disability, anxiety, and mood disorders. However, the features of trisomy X vary and we were therefore unable to predict the newborn's precise postnatal physical and psychological characteristics. The couple decided to continue the pregnancy, and a female newborn was delivered at 38 weeks of gestation weighing 2,418 g. The karyotype was confirmed as 47,XXX, but her development to date (age of 2 years) has been normal. [Conclusions] Careful genetic counseling is important for pregnant women and their partners following a prenatal diagnosis of trisomy X. |
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| 書誌情報 |
Acta medica Nagasakiensia 巻 64, 号 1, p. 31-34, 発行日 2020-06 |
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| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 00016055 | |||||
| 書誌レコードID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA00508430 | |||||
| 著者版フラグ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| 出版者 | ||||||
| 出版者 | Nagasaki University School of Medicine | |||||
| 出版者別言語 | ||||||
| 値 | 長崎大学医学部 | |||||
| sortkey | ||||||
| 値 | 05 | |||||
| 引用 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Acta medica Nagasakiensia, 64(1), pp.31-34; 2020 | |||||
