VCF syndrome

口蓋心臓顔面症候群

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"
3. the 22nd letter of the Roman alphabet (同)v

PrepTutorEJDIC

1. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
2. vanadium の化学記号
3. Victoria Cross

UpToDate Contents

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• 1. 遺伝子検査による偶発的所見および二次的所見 incidental and secondary findings from genetic testing

English Journal

• Clinical Guidance for Smallpox Vaccine Use in a Postevent Vaccination Program.

• Petersen BW, Damon IK, Pertowski CA, Meaney-Delman D, Guarnizo4 JT, Beigi RH, Edwards KM, Fisher MC, Frey SE, Lynfield R, Willoughby RE.
• MMWR. Recommendations and reports : Morbidity and mortality weekly report. Recommendations and reports / Centers for Disease Control.MMWR Recomm Rep.2015 Feb 20;64(RR-02):1-26.
• This report outlines recommendations for the clinical use of the three smallpox vaccines stored in the U.S. Strategic National Stockpile for persons who are exposed to smallpox virus or at high risk for smallpox infection during a postevent vaccination program following an intentional or accidental
• PMID 25695372

• Mouse and Human CRKL Is Dosage Sensitive for Cardiac Outflow Tract Formation.

• Racedo SE1, McDonald-McGinn DM2, Chung JH1, Goldmuntz E3, Zackai E2, Emanuel BS2, Zhou B1, Funke B4, Morrow BE5.
• American journal of human genetics.Am J Hum Genet.2015 Feb 5;96(2):235-44. doi: 10.1016/j.ajhg.2014.12.025.
• The human chromosome 22q11.2 region is susceptible to rearrangements during meiosis leading to velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome (22q11DS) characterized by conotruncal heart defects (CTDs) and other congenital anomalies. The majority of individuals have a 3 Mb deletion whose prox
• PMID 25658046

• Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia.

• Funato N1, Nakamura M2, Richardson JA3, Srivastava D4, Yanagisawa H5.
• Human molecular genetics.Hum Mol Genet.2015 Jan 15;24(2):424-35. doi: 10.1093/hmg/ddu458. Epub 2014 Sep 10.
• T-box transcription factor, TBX1, is the major candidate gene for 22q11.2 deletion syndrome (DiGeorge/ Velo-cardio-facial syndrome) characterized by facial defects, thymus hypoplasia, cardiovascular anomalies and cleft palates. Here, we report that the loss of Tbx1 in mouse (Tbx1(-/-)) results in sk
• PMID 25209980

Japanese Journal

• VCF症例における内頸動脈走行の計測に関する一方法

• 日本口蓋裂学会雑誌 18(2), 201-209, 1993
• NAID 130004988314

• Ｖｅｌｏｃａｒｄｉｏｆａｃｉａｌ　ｓｙｎｄｒｏｍｅに類似する児の口蓋形成術後の言語成績

• 音声言語医学 30(2), 167-177, 1989
• NAID 130000993730

Related Links

• VCF syndrome - RightDiagnosis.com - Right Diagnosis

VCF syndrome symptoms, causes, diagnosis, and treatment information for VCF syndrome (Velocardiofacial syndrome) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments, prevention, and prognosis. ...

• VCFS 22q11 Foundation - What is VCFS

What is VCFS? Velocardiofacial syndrome (VCFS/ 22q11) is a genetic syndrome (a syndrome means a pattern of features occurring together). VCFS/deletion 22q11 is the most common microdeletion syndrome The most common ...

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★リンクテーブル★

リンク元	「口蓋心臓顔面症候群」
拡張検索	「Shprintzen VCF syndrome」
関連記事	「V」「VC」「syndrome」

「口蓋心臓顔面症候群」

　　[★]

英

velo-cardio-facial syndrome, VCFS, velocardiofacial syndrome, VCF syndrome, Shprintzen VCF syndrome

同

velo-cardio-facial症候群, Shprintzen syndrome？

関

22q11欠失症 chromosome 22q11.2 deletion syndrome

参考

• OMIM

http://omim.org/entry/192430

「Shprintzen VCF syndrome」

　　[★] 口蓋心臓顔面症候群

「V」

　　[★]

• バリン valine
• ビタミン vitamine
• ventilation

　 　

「VC」

　　[★]

• 肺活量 vital capacity
• ビタミンC vitamin C

　

「syndrome」

　　[★]

• n.

• 症候群