18トリソミー
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell
PrepTutorEJDIC
- (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
UpToDate Contents
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English Journal
- Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication.
- Starr LJ1, Sanmann JN, Olney AH, Wandoloski M, Sanger WG, Coulter DW.Author information 1Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska.AbstractDuplications of the long arm of chromosome 18 have been previously reported in patients with phenotypic findings similar to full trisomy 18. Trisomy 18 increases the risk for Wilms tumor and it is currently recommended that these patients undergo abdominal ultrasonography screening every 6 months. We report on nephroblastomatosis in a 27-month-old male with a 55 Mb duplication of chromosome 18q11.2-q23 (chr18:22693370-77982126, hg 19) and propose that the trisomy 18 tumor screening protocol could also benefit patients with large 18q duplications. © 2014 Wiley Periodicals, Inc.
- American journal of medical genetics. Part A.Am J Med Genet A.2014 Apr;164(4):1079-82. doi: 10.1002/ajmg.a.36432. Epub 2014 Mar 4.
- Duplications of the long arm of chromosome 18 have been previously reported in patients with phenotypic findings similar to full trisomy 18. Trisomy 18 increases the risk for Wilms tumor and it is currently recommended that these patients undergo abdominal ultrasonography screening every 6 months. W
- PMID 24596125
- Evolving medical and surgical management of infants with trisomy 18.
- Lorenz JM1, Hardart GE.Author information 1aDivision of Neonatology, College of Physicians and Surgeons, Columbia University bDivision of Pediatric Critical Care Medicine, College of Physicians and Surgeons, Columbia University, New York, New York, USA.AbstractPURPOSE OF REVIEW: To review the evolving management of infants/children with trisomy 18, the prognosis with and without medical intervention, the factors that have contributed to the evolving management strategies, and an approach to the formulation of healthcare management plans for newborns with trisomy 18.
- Current opinion in pediatrics.Curr Opin Pediatr.2014 Apr;26(2):169-76. doi: 10.1097/MOP.0000000000000076.
- PURPOSE OF REVIEW: To review the evolving management of infants/children with trisomy 18, the prognosis with and without medical intervention, the factors that have contributed to the evolving management strategies, and an approach to the formulation of healthcare management plans for newborns with
- PMID 24503533
- Twenty-two survivors over the age of 1 year with full trisomy 18: Presenting and current medical conditions.
- Bruns D1, Campbell E.Author information 1Southern Illinois University Carbondale, Carbondale, Illinois.AbstractThe purpose of the study is to provide data about 22 survivors over the age of 1 year with full trisomy 18 (12-59 months). Mothers completed the online, mixed method Tracking Rare Incidence Syndrome (TRIS) Survey provides data on birth information (e.g., gestational age, birth weight) and medical conditions identified at birth and at the time of survey completion. Data indicate similar birth characteristics to other studies and presence of syndrome related medical conditions including cardiac conditions, use of a variety of feeding methods, apnea, respiratory difficulties, and kidney issues. Associated interventions, sometimes considered "aggressive" or "intensive" treatments including cardiac surgeries were noted in the sample. Implications for treatment are provided and the need for additional research with this clinical subgroup is needed. © 2013 Wiley Periodicals, Inc.
- American journal of medical genetics. Part A.Am J Med Genet A.2014 Mar;164(3):610-9. doi: 10.1002/ajmg.a.36318. Epub 2013 Dec 20.
- The purpose of the study is to provide data about 22 survivors over the age of 1 year with full trisomy 18 (12-59 months). Mothers completed the online, mixed method Tracking Rare Incidence Syndrome (TRIS) Survey provides data on birth information (e.g., gestational age, birth weight) and medical co
- PMID 24375938
Japanese Journal
- Catalytic ferrous iron in amniotic fluid as a predictive marker of human maternal-fetal disorders
- 当院にて分娩となった18トリソミーの出生前診断と臨床経過の検討
- 胎児診断された先天性心疾患における右側大動脈弓の頻度と 胎児心スクリーニングにおける有用性
★リンクテーブル★
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- 英
- trisomy 18
- 同
- 18トリソミー症候群 trisomy 18 syndrome、エドワーズ症候群 Edwards症候群 Edwards syndrome Edwards' syndrome、Eトリソミー症候群 trisomy E syndrome
- 関
- トリソミー、染色体異常、常染色体異常
疫学
- 新生児5000-8000人に一例の割合で見られる。
- 男女比=1:3 (女児に多い)
- 周産期死亡児50人に一人の割合で認められる。
病因
- 過剰18番染色体の存在:染色体の不分離(+18)が大半(過剰染色体はほとんどが母親由来)。モザイクや転座は稀にある。
症候
- 全身:低出生体重
- 頭部:後頭突出、高鼻根、耳介低位、小眼裂、小口唇、小下顎
- 上肢:指の重なり、関節屈曲拘縮
- 下肢:揺り椅子の底状の足
- 心血管:心奇形
- 消化器:腸回転異常症
- 泌尿器:腎奇形
- 精神発達:遅滞
予後
- http://emedicine.medscape.com/article/943463-media
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