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  1. 学術雑誌論文
  2. 琉球医学会
  3. 琉球大学医学会雑誌
  4. 10巻2号
  1. 部局別インデックス
  2. その他

[原著]EXPRESSION OF 4P MONOSOMY PHENOTYPE IN HETEROZYGOUS PERICENTRIC INVERSION OF CHROMOSOME 4 ASSOCIATED WITH 18 TRISOMY MOSAICISM

http://hdl.handle.net/20.500.12000/0002015726
http://hdl.handle.net/20.500.12000/0002015726
d4f8e9f8-7642-41e3-8d62-cb5da3982be5
名前 / ファイル ライセンス アクション
v10p87.pdf v10p87.pdf
Item type デフォルトアイテムタイプ(フル)(1)
公開日 2010-06-30
タイトル
タイトル [原著]EXPRESSION OF 4P MONOSOMY PHENOTYPE IN HETEROZYGOUS PERICENTRIC INVERSION OF CHROMOSOME 4 ASSOCIATED WITH 18 TRISOMY MOSAICISM
言語 ja
作成者 Nantomi, Kenji

× Nantomi, Kenji

en Nantomi, Kenji

Miyagi, Chuken

× Miyagi, Chuken

en Miyagi, Chuken

Izumikawa, Yosinori

× Izumikawa, Yosinori

en Izumikawa, Yosinori

Yosida, Kaoru

× Yosida, Kaoru

en Yosida, Kaoru

Hirayama, Kiyotake

× Hirayama, Kiyotake

en Hirayama, Kiyotake

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
権利情報
言語 ja
権利情報 琉球医学会
内容記述
内容記述タイプ Other
内容記述 A patient with pencentric inversion of chromosome 4 associated with 18 trisomy mosaicism is reported. The phenotype of the patient was complicated with relatively mild phenotypes of 4p monosomy and 18 trisomy. Chromosomal analysis by high-resolution banding technique revealed inversion(4) associated with 18 trisomy mosaicism. The karyotype was designated as 46, XY, inv(4) (pl6q21.2)/47, XY, inv(4) (p16q21.1), +18. The pericentric inversion was transmitted by the healthy father with normal phenotype and mentality. This is the first case that phenotype of 4p monosomy was expressed in inversion(4) heterozygosity.
内容記述タイプ Other
内容記述 論文
出版者
言語 ja
出版者 琉球大学医学部
言語
言語 eng
資源タイプ
資源タイプ journal article
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
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 0289-1530
収録物識別子タイプ NCID
収録物識別子 AN10027430
収録物名
言語 ja
収録物名 琉球大学医学会雑誌 : 医学部紀要 = Ryukyu medical journal
書誌情報
巻 10, 号 2, p. 87-93
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