WordNet

chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 慢性リンパ性白血病の病態生理および遺伝学的特徴 pathophysiology and genetic features of chronic lymphocytic leukemia
2. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
3. 慢性リンパ性白血病に対する治療の概要 overview of the treatment of chronic lymphocytic leukemia
4. 慢性リンパ性白血病の病期分類および予後 staging and prognosis of chronic lymphocytic leukemia
5. 小リンパ球性リンパ腫の臨床症状、病理学的特徴、および診断 clinical manifestations pathologic features and diagnosis of small lymphocytic lymphoma

First trimester risk assessment for trisomy 21 in twin pregnancies combining nuchal translucency and first trimester biochemical markers.

Prats P, Rodríguez I, Comas C, Puerto B.SourceFetal Medicine Service, Department of Obstetrics, Gynecology and Reproductive Medicine, Institut Universitari Dexeus, Barcelona, Spain.
Prenatal diagnosis.Prenat Diagn.2012 Jul 3:1-6. doi: 10.1002/pd.3934. [Epub ahead of print]
OBJECTIVE: The aim is to describe the performance of first-trimester combined risk assessment in twin pregnancies.METHODS: Maternal serum free beta-human chorionic gonadotrophin and pregnancy-associated plasma protein A (PAPP-A) were determined at 8 to 12 weeks and fetal nuchal translucency (NT) w
PMID 22752980

Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication.

Margari L, Di Cosola ML, Buttiglione M, Pansini A, Buonadonna AL, Craig F, Cariola F, Petruzzelli MG, Gentile M.SourceDepartment of Neurological and Psychiatric Sciences, Child and Adoloscence Neuropsychiatric Unit, University of Bari, Italy.
American journal of medical genetics. Part A.Am J Med Genet A.2012 Jul;158A(7):1713-8. doi: 10.1002/ajmg.a.35400. Epub 2012 May 25.
Genomic copy number imbalances are being increasingly identified as an important cause of intellectual disability (ID) and behavioral disturbances. This article reports the clinical features, and long term follow-up of a patient with neurodevelopmental, cognitive, and behavioral abnormalities associ
PMID 22639464

ヒルシュスプルング病に対するDuhamel変法(Z-shaped colorectal anastomosis)の長期成績 : アンケート調査による術後長期の排便状況

漆原直人,福本弘二,福澤宏明,杉山彰英,渡辺健太郎,光永眞貴,草深純一,三宅啓,青葉剛史,長谷川史郎
日本小児外科学会雑誌 47(7), 1004-1009, 2011-12-20
… 況についてアンケート調査を行い72例(65%)から回答を得た.この内,ダウン症6例と障害児1例の7例を除く65例を対象とした.年齢は4〜34歳(平均18.1歳),手術は開腹手術53例,腹腔鏡下手術12例.これらの結果をI群(4〜6歳)7例,II群(7〜12歳)11例,III群(13〜18歳)18例,IV群(19〜34歳)29例に分け排便状況について検討するとともにスコア化し評価した.検討項目は,(1)緩下剤・浣腸の使用頻度,(2)排便回数,(3)便性,(4)便意,(5)便と …
NAID 110008896719

仁志田博司
東京女子医科大学雑誌 78(12
… In this presentation, I will talk about a case of 18 trisomy to demonstrate our approach in medical and socio-economical care from bioethical viewpoints. …
NAID 110007524771