X-linked recessive disorder

X連鎖劣性遺伝病

WordNet

1. the means of connection between things linked in series (同)nexus
2. a unit of length equal to 1/100 of a chain
3. an interconnecting circuit between two or more locations for the purpose of transmitting and receiving data (同)data link
4. a fastener that serves to join or connect; "the walls are held together with metal links placed in the wet mortar during construction" (同)linkup, tie, tie-in
5. (computing) an instruction that connects one part of a program or an element on a list to another program or list
6. bring disorder to (同)disarray
7. a physical condition in which there is a disturbance of normal functioning; "the doctor prescribed some medicine for the disorder"; "everyone gets stomach upsets from time to time" (同)upset
8. a disturbance of the peace or of public order
9. (of genes) producing its characteristic phenotype only when its allele is identical
10. the 24th letter of the Roman alphabet (同)x, ex
11. not arranged in order (同)unordered

PrepTutorEJDIC

1. (鎖の)『輪』,環 / 鎖のようにつながったソーセージの一節 / (…と)つなぐ物(人),(…との)きずな,つながり《+『with』(『to』)+『名』》 / 《複数形で》=cuff links / …‘を'『つなぎ合わせる』,連結する;(…と)…‘を'つなぐ《+『名』+『with』(『to』)+『名』》 / (…と)結合する,つながる《+[『up』(『together』)]『with』+『名』》
2. たいまつ
3. 〈U〉『無秩序』,混乱,乱雑(confusion) / 《しばしば複数形で》(社会的・政治的な)粉争,騒動 / 〈C〉(肉体的・精神的な)不調,異常,障害 / …‘の'秩序を乱す / 〈心身〉‘に'異常を起こさせる
4. 後退する,退行の / (遺伝が)劣性の / 劣性遺伝形質
5. Christ / Christian

UpToDate Contents

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• Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.

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• Genome medicine.Genome Med.2018 Sep 28;10(1):74. doi: 10.1186/s13073-018-0582-x.
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Japanese Journal

• <b>分子遺伝学的検査にて本邦初の変異と家族内発症が明らかになったLesch-Nyhan variantの一家系</b>

• 痛風と核酸代謝 39(2), 121-128, 2015
• NAID 130005114182

• Ruptured Posterior Communicating Artery Aneurysm Associated with Aarskog Syndrome

• NMC Case Report Journal 2(3), 85-87, 2014
• NAID 130005085682

• Ruptured Posterior Communicating Artery Aneurysm Associated with Aarskog Syndrome

• NMC Case Report Journal advpub(0), 2014
• NAID 130005056830

Related Links

• Sex-linked recessive: MedlinePlus Medical Encyclopedia

X-linked recessive diseases usually occur in males. Males have only one X chromosome. A single recessive gene on that X chromosome will cause the disease. The Y chromosome is the other half of the XY gene pair in ...

• X-linked recessive genetic defects: MedlinePlus Medical ...

Overview There are several X-linked (or sex-linked) recessive genetic disorders, (hemophilia, muscular dystrophy) which are inherited through a genetic defect on an X chromosome. A female has 2 X chromosomes, one ...

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★リンクテーブル★

リンク元	「X連鎖劣性遺伝病」
関連記事	「link」「disorder」「recessive」「linked」「X」

「X連鎖劣性遺伝病」

　　[★]

英

X-linked recessive disorder

関

伴性劣性遺伝病、X連鎖遺伝病

X-linked recessive disorders (first aid step p.109)

• 脆弱X症候群 fragile X syndrome
• デュシェンヌ型筋ジストロフィー Duchenne's muscular dystrophy
• 血友病A hemophilia A
• 血友病B hemophilia B
• ファブリー病 Fabry's disease
• グルコース-6-リン酸脱水素酵素欠損症 glucose-6-phosphate dehydrogenase deficiency
• ハンター症候群 Hunter's syndrome
• 眼白子症 ocular albinism
• レッシュ・ナイハン症候群 Lesch-Nyhan syndrome
• ブルトン型無γグロブリン血症 Bruton's agammaglobulinemia
• ウィスコット・アルドリッチ症候群 Wiskott-Aldrich syndrome

Female carriers of X-linked recessive disorders are rarely affected because of random inactivation of X chromosomes in each cell.

「link」

　　[★]

• n.

• 関連、連鎖、連結、リンク

• v.

• 関連づける、連結する、連接する

関

associate、association、attach、bearing、bind、catenate、catenation、concatenation、connect、connection、correlate、correlation、implicate、implication、join、juncture、ligate、ligation、linkage、linked、pertinent、reference、relate、relation、relationship、relative、relevance、relevant

　 　 　 　 　 　 　

「disorder」

　　[★]

• 障害：個人的苦痛や機能の障害があるので「疾病」とは言えるものの、その背景にある臓器障害がもう一つはっきりしない場合に用いられる。(PSY.9)

• n.

• an untidy state; a lack of order or organization (⇔order)
• violent behaviour of large groups of people
• an illness that cause a part of the body to stop functioning correctly

• 注意

disease <> illness <> disorder

• vt.

• 乱す、乱雑にする。(人)の(心身の)調子を狂わせる。

• vi.

　 　 　 　

「recessive」

　　[★]

• adj.

• 劣性の、劣性遺伝性の

関

inferior、recessively、recessiveness

　 　

「linked」

　　[★]

• adj.

• 連鎖の、連鎖的な、連鎖性の

関

catenation、link、linkage

「X」

　　[★] キサントシン, xanthosine