WEKO3
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正常adenosine deaminase(ADA)活性を伴う46, XX, del(20)(q11.23q13.11)の1例
https://doi.org/10.15069/00000667
https://doi.org/10.15069/000006673ca1a7a7-6575-43f1-a35d-410aad0034d1
名前 / ファイル | ライセンス | アクション |
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KJ00004702909 (891.6 kB)
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Item type | 紀要論文(ELS) / Departmental Bulletin Paper(1) | |||||||||||||||
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公開日 | 2007-03-25 | |||||||||||||||
タイトル | ||||||||||||||||
タイトル | 正常adenosine deaminase(ADA)活性を伴う46, XX, del(20)(q11.23q13.11)の1例 | |||||||||||||||
タイトル | ||||||||||||||||
言語 | en | |||||||||||||||
タイトル | A 46, XX, del(20)(q11.23q13.11) with normal adenosine deaminase (ADA) activity | |||||||||||||||
言語 | ||||||||||||||||
言語 | eng | |||||||||||||||
キーワード | ||||||||||||||||
主題Scheme | Other | |||||||||||||||
主題 | 20番染色体長腕部分モノソミー | |||||||||||||||
キーワード | ||||||||||||||||
主題Scheme | Other | |||||||||||||||
主題 | adenosine deaminase(ADA) | |||||||||||||||
キーワード | ||||||||||||||||
言語 | en | |||||||||||||||
主題Scheme | Other | |||||||||||||||
主題 | chromosome 20 | |||||||||||||||
キーワード | ||||||||||||||||
言語 | en | |||||||||||||||
主題Scheme | Other | |||||||||||||||
主題 | partial monosomy 20q | |||||||||||||||
キーワード | ||||||||||||||||
言語 | en | |||||||||||||||
主題Scheme | Other | |||||||||||||||
主題 | adenosine deaminase(ADA) | |||||||||||||||
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 | |||||||||||||||
ID登録 | ||||||||||||||||
ID登録 | 10.15069/00000667 | |||||||||||||||
ID登録タイプ | JaLC | |||||||||||||||
ページ属性 | ||||||||||||||||
内容記述タイプ | Other | |||||||||||||||
内容記述 | P(論文) | |||||||||||||||
著者名(日) |
園田, 徹
× 園田, 徹
WEKO
811
× 富森, 美絵子× 岩城, 哲× 池脇, 信直
WEKO
7
× 岩本, 壮太郎 |
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著者名よみ |
ソノダ, トオル
× ソノダ, トオル× トミモリ, ミエコ× イワシロ, サトル× イケワキ, ノブナオ× イワモト, ソウタロウ |
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著者名(英) |
SONODA, Tohru
× SONODA, Tohru× TOMIMORI, Mieko× IWASHIRO, Satoru× IKEWAKI, Nobunao× IWAMOTO, Soutarou |
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著者所属(日) | ||||||||||||||||
九州保健福祉大学保健科学部作業療法学科 | ||||||||||||||||
著者所属(日) | ||||||||||||||||
九州保健福祉大学保健科学部作業療法学科 | ||||||||||||||||
著者所属(日) | ||||||||||||||||
九州保健福祉大学保健科学部作業療法学科 | ||||||||||||||||
著者所属(日) | ||||||||||||||||
九州保健福祉大学保健科学部作業療法学科 | ||||||||||||||||
著者所属(日) | ||||||||||||||||
九州保健福祉大学保健科学部作業療法学科 | ||||||||||||||||
著者所属(英) | ||||||||||||||||
en | ||||||||||||||||
Department of Occupational Therapy, School of Health Sciences, Kyusyu University of Health and Welfare | ||||||||||||||||
著者所属(英) | ||||||||||||||||
en | ||||||||||||||||
Department of Occupational Therapy, School of Health Sciences, Kyusyu University of Health and Welfare | ||||||||||||||||
著者所属(英) | ||||||||||||||||
en | ||||||||||||||||
Department of Occupational Therapy, School of Health Sciences, Kyusyu University of Health and Welfare | ||||||||||||||||
著者所属(英) | ||||||||||||||||
en | ||||||||||||||||
Department of Occupational Therapy, School of Health Sciences, Kyusyu University of Health and Welfare | ||||||||||||||||
著者所属(英) | ||||||||||||||||
en | ||||||||||||||||
Department of Occupational Therapy, School of Health Sciences, Kyusyu University of Health and Welfare | ||||||||||||||||
抄録(日) | ||||||||||||||||
内容記述タイプ | Other | |||||||||||||||
内容記述 | 46, XX, del(20)(q11.23q13.11)の1例を報告する。症例は在胎41週1日で出生した。出生体重は3, 082g、身長51.0cm、頭囲34.2cmであった。眼球陥凹、前向き鼻孔、前額部のポートワインマーク、耳介下方付着、両側軸三叉線高位、右股関節脱臼、全身の筋緊張低下などの異常がみられた。反復性感染の既往はなかった。生後7カ月のときの発達指数は約60であった。末梢血リンパ球を用いたGバンドによる染色体検査では、患児は20q11.23→q13.11の腕内欠失を有していることがわかった。20q13.11に遣伝子座があるといわれるadenosine deaminase(ADA)値は14.6IU/L(正常値6.8-18.2)であった。 | |||||||||||||||
抄録(英) | ||||||||||||||||
内容記述タイプ | Other | |||||||||||||||
内容記述 | We present a patient with 46, XX, del(20)(q11.23q13.11). The proband, a female infant, was born after 41-weeks gestation. The birth weight was 3, 082g, length 51.0cm and head circumference 34.2cm. Physical findings included : deep-set eyes, anteverted nostrils, a portwine stain on the forehead low-set ears, bilateral high axial triradius, right hip dislocation, and general muscular hypotonia. There was no history of recurrent infection. Development quotient(DQ) at 7 months after birth was about 60. The patient's G-banded karyotype analyzed on cultured lymphocytes revealed she had an interstitial deletion of 20q (q11.23→q13.11). The level of the patient's adenosine deaminase (ADA), for which the gene locus is mapped on 20q13.11, was 14.6 IU/L (normal range : 6.8-18.2) | |||||||||||||||
雑誌書誌ID | ||||||||||||||||
収録物識別子タイプ | NCID | |||||||||||||||
収録物識別子 | AA11490417 | |||||||||||||||
書誌情報 |
九州保健福祉大学研究紀要 en : Journal of Kyushu University of Health and Welfare 巻 8, p. 117-121, 発行日 2007-03-25 |