WordNet

son of Edward III who defeated the French at Crecy and Poitiers in the Hundred Years War (1330-1376) (同)Black Prince
King of England from 1272 to 1307; conquered Wales (1239-1307) (同)Edward I
King of England from 1307 to 1327 and son of Edward I; was defeated at Bannockburn by the Scots led by Robert the Bruce; was deposed and died in prison (1284-1327) (同)Edward II
son of Edward II and King of England from 1327-1377; his claim to the French throne provoked the Hundred Years War; his reign was marked by an epidemic of the Black Plague and by the emergence of the House of Commons as the powerful arm of British Parli (同)Edward III
King of England from 1461 to 1470 and from 1471 to 1483; was dethroned in 1470 but regained the throne in 1471 by his victory at the battle of Tewkesbury (1442-1483) (同)Edward IV
King of England who was crowned at the age of 13 on the death of his father Edward IV but was immediately confined to the Tower of London where he and his younger brother were murdered (1470-1483) (同)Edward V
King of England and Ireland from 1547 to 1553; son of Henry VIII and Jane Seymour; died of tuberculosis (1537-1553) (同)Edward VI
King of England from 1901 to 1910; son of Victoria and Prince Albert; famous for his elegant sporting ways (1841-1910) (同)Edward VII, Albert Edward
King of England and Ireland in 1936; his marriage to Wallis Warfield Simpson created a constitutional crisis leading to his abdication (1894-1972) (同)Edward VIII, Duke of Windsor
third son of Elizabeth II (born in 1964) (同)Prince Edward, Edward Antony Richard Louis
a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
American theologian whose sermons and writings stimulated a period of renewed interest in religion in America (1703-1758) (同)Jonathan Edwards

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

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/01/25 19:04:35」(JST)

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Edwards syndrome (also known as trisomy 18 [T18]) is a chromosomal abnormality caused by the presence of all, or part of, an extra 18th chromosome. This genetic condition almost always results from nondisjunction during meiosis. It is named after John Hilton Edwards, who first described the syndrome in 1960.^[1] It is the second-most common autosomal trisomy, after Down syndrome, that carries to term.

Edwards syndrome occurs in around one in 6,000 live births, and around 80% of those affected are female.^[2] The majority of fetuses with the syndrome die before birth.^[2] The incidence increases as the mother's age increases. The syndrome has a very low rate of survival, resulting from heart abnormalities, kidney malformations, and other internal organ disorders.

Signs and symptoms

Clenched hand and overlapping fingers: index finger overlaps third finger and fifth finger overlaps fourth finger, characteristically seen in trisomy 18

Children born with Edwards syndrome may have some or all of these characteristics: kidney malformations, structural heart defects at birth (i.e., ventricular septal defect, atrial septal defect, patent ductus arteriosus), intestines protruding outside the body (omphalocele), esophageal atresia, intellectual disability, developmental delays, growth deficiency, feeding difficulties, breathing difficulties, and arthrogryposis (a muscle disorder that causes multiple joint contractures at birth).^[3]^[4]

Some physical malformations associated with Edwards syndrome include small head (microcephaly) accompanied by a prominent back portion of the head (occiput), low-set, malformed ears, abnormally small jaw (micrognathia), cleft lip/cleft palate, upturned nose, narrow eyelid folds (palpebral fissures), widely spaced eyes (ocular hypertelorism), drooping of the upper eyelids (ptosis), a short breast bone, clenched hands, choroid plexus cysts, underdeveloped thumbs and/or nails, absent radius, webbing of the second and third toes, clubfoot or rocker bottom feet, and in males, undescended testicles.^[3]^[4]

In utero, the most common characteristic is cardiac anomalies, followed by central nervous system anomalies such as head shape abnormalities. The most common intracranial anomaly is the presence of choroid plexus cysts, which are pockets of fluid on the brain. These are not problematic in themselves, but their presence may be a marker for trisomy 18.^[5]^[6] Sometimes, excess amniotic fluid or polyhydramnios is exhibited.^[3]

Genetics

Edwards syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 18th chromosome, either in whole (trisomy 18) or in part (such as due to translocations). The additional chromosome usually occurs before conception. The effects of the extra copy vary greatly, depending on the extent of the extra copy, genetic history, and chance. Edwards syndrome occurs in all human populations, but is more prevalent in female offspring.^[7]

A healthy egg and/or sperm cell contains individual chromosomes, each of which contributes to the 23 pairs of chromosomes needed to form a normal cell with a typical human karyotype of 46 chromosomes. Numerical errors can arise at either of the two meiotic divisions and cause the failure of a chromosome to segregate into the daughter cells (nondisjunction). This results in an extra chromosome, making the haploid number 24 rather than 23. Fertilization of eggs or insemination by sperm that contain an extra chromosome results in trisomy, or three copies of a chromosome rather than two.^[8]

Trisomy 18 (47,XX,+18) is caused by a meiotic nondisjunction event. With nondisjunction, a gamete (i.e., a sperm or egg cell) is produced with an extra copy of chromosome 18; the gamete thus has 24 chromosomes. When combined with a normal gamete from the other parent, the embryo has 47 chromosomes, with three copies of chromosome 18.

A small percentage of cases occur when only some of the body's cells have an extra copy of chromosome 18, resulting in a mixed population of cells with a differing number of chromosomes. Such cases are sometimes called mosaic Edwards syndrome. Very rarely, a piece of chromosome 18 becomes attached to another chromosome (translocated) before or after conception. Affected individuals have two copies of chromosome 18 plus extra material from chromosome 18 attached to another chromosome. With a translocation, a person has a partial trisomy for chromosome 18, and the abnormalities are often less severe than for the typical Edwards syndrome.

Prognosis

In 2008/2009, 495 diagnoses of Edwards syndrome (trisomy 18) were made in England and Wales, 92% of which were made prenatally, resulting in 339 abortions, 49 stillbirths/miscarriages/fetal deaths, 72 unknown outcomes, and 35 live births.^[9] Because about 3% of cases with unknown outcomes are likely to result in a live birth, the total number of live births is estimated to be 37 (2008/09 data are provisional). Major causes of death include apnea and heart abnormalities. It is impossible to predict an exact prognosis during pregnancy or the neonatal period.^[7] Half of the infants with this condition do not survive beyond the first week of life.^[10] The median lifespan is five to 15 days.^[11]^[12] About 8% of infants survive longer than 1 year.^[13] One percent of children live to age 10, typically in less severe cases of the mosaic Edwards syndrome.^[7]

Epidemiology

Edwards syndrome occurs in about one in 6,000 live births, but more conceptions are affected by the syndrome because the majority of those diagnosed with the condition prenatally will not survive the prenatal period.^[2]^[14] Although women in their 20s and early 30s may conceive babies with Edwards syndrome, the risk of conceiving a child with it increases with a woman's age. The average maternal age for conceiving a child with this disorder is 32½.^[15]

References

^ "Edwards syndrome (John Hilton Edwards)". WhoNamedIt.com. Retrieved 2008-07-24.
^ ^a ^b ^c "Health: Edwards syndrome". BBC. Archived from the original on December 2, 2011. Retrieved 2012-01-04.
^ ^a ^b ^c "What is Trisomy 18?". Trisomy 18 Foundation. Retrieved 2008-07-24.
^ ^a ^b "Trisomy 18". Medline. Retrieved 2008-07-24.
^ Hurt K, Sottner O, Záhumenský J, et al. (2007). "[Choroid plexus cysts and risk of trisomy 18. Modifications regarding maternal age and markers]". Ceska Gynekol (in Czech) 72 (1): 49–52. PMID 17357350.
^ Papp C, Ban Z, Szigeti Z, Csaba A, Beke A, Papp Z (2007). "Role of second trimester sonography in detecting trisomy 18: a review of 70 cases". J Clin Ultrasound 35 (2): 68–72. doi:10.1002/jcu.20290. PMID 17206726.
^ ^a ^b ^c Chen, MD, Harold. "Introduction to Trisomy 18". EMedicine. Retrieved 2008-07-24.
^ For a description of human karyotype see Mittleman, A. (editor) (1995). "An International System for Human Cytogenetic Nomeclature". Retrieved 2006-06-04.
^ "National Down Syndrome Cytogenetic Register Annual Reports 2008/09".
^ "Trisomy 18: MedlinePlus Medical Encyclopedia". Nlm.nih.gov. 2011-12-14. Retrieved 2012-01-04.
^ Rodeck, Charles H.; Whittle, Martin J. (1999). Fetal Medicine: Basic Science and Clinical Practice. Elsevier Health Sciences. ISBN 0-443-05357-X.
^ Zoler, Mitchel L. (March 1, 2003). "Trisomy 13 survival can exceed 1 year". OB/GYN News. Retrieved 2008-07-24.
^ "Trisomy 13 survival can exceed 1 year | OB/GYN News". Find Articles. 2003-03-01. Retrieved 2012-01-04.
^ "Edwards' Syndrome | Doctor | Patient UK". Patient.info. 2011-03-02. Retrieved 2012-01-04.
^ "Prevalence and Incidence of Edwards Syndrome". Diseases Center-Edwards Syndrome. Adviware Pty Ltd. 2008-02-04. Retrieved 2008-02-17. mean maternal age for this disorder is 32½

External links

Trisomy 18 Foundation, Inc.
SOFT USA Support Organization For Trisomy 18, 13, and Related Disorders
Trisomy 18 Support Program
Chromosome 18 Clinical Research Center
SOFT UK Support Organisation for trisomy 13/18 and related disorders
The Chromosome 18 Registry & Research Society
Perinatal Hospice Care - Preparing for birth and death"
Humpath #5389

UpToDate Contents

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1. ダウン症および18トリソミーに対するスクリーニングのための、妊娠初期におけるcombined testおよびintegrated test first trimester combined test and integrated tests for screening for down syndrome and trisomy 18
2. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
3. 胎児異数性に関連する超音波所見 sonographic findings associated with fetal aneuploidy
4. 遺伝的変異の概要 overview of genetic variation
5. 臍帯ヘルニアの産科的マネージメント obstetrical management of omphalocele

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

Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies.

Huang X1, Zheng J, Chen M, Zhao Y, Zhang C, Liu L, Xie W, Shi S, Wei Y, Lei D, Xu C, Wu Q, Guo X, Shi X, Zhou Y, Liu Q, Gao Y, Jiang F, Zhang H, Su F, Ge H, Li X, Pan X, Chen S, Chen F, Fang Q, Jiang H, Lau TK, Wang W.Author information 1Fetal Medicine Center, Department of Obstetrics and Gynecology, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China.AbstractOBJECTIVE: The objective of this study is to assess the performance of noninvasive prenatal testing for trisomies 21 and 18 on the basis of massively parallel sequencing of cell-free DNA from maternal plasma in twin pregnancies.
Prenatal diagnosis.Prenat Diagn.2014 Apr;34(4):335-40. doi: 10.1002/pd.4303. Epub 2014 Feb 3.
OBJECTIVE: The objective of this study is to assess the performance of noninvasive prenatal testing for trisomies 21 and 18 on the basis of massively parallel sequencing of cell-free DNA from maternal plasma in twin pregnancies.METHOD: A double-blind study was performed over 12 months. A total of
PMID 24357023

Japanese Journal

A molecular genetic analysis of childhood nephrotic syndrome in chort of Saudi Arbian families

Journal of human genetics 58(7), 480-489, 2013-07-01
NAID 10031190045

Ｐｏｒｃｅｌａｉｎ　ａｏｒｔａ，冠動脈病変合併の大動脈弁狭窄症に対しａｐｉｃｏａｏｒｔｉｃ　ｂｙｐａｓｓと冠動脈バイパス術を施行した１例

日本心臓血管外科学会雑誌 40(6), 286-289, 2011
NAID 130004548350

当院NICUで経験したtrisomy18に関する検討

福岡大学医学紀要 37(3), 149-153, 2010-09
NAID 110007648424

Related Pictures

★リンクテーブル★

リンク元	「18トリソミー」
関連記事	「Edward」「syndrome」

「18トリソミー」

Edwards syndrome
	Chromosome 18
Classification and external resources
Specialty	Medical genetics, pediatrics
ICD-10	Q91.0-Q91.3
ICD-9-CM	758.2
DiseasesDB	13378
MedlinePlus	001661
eMedicine	ped/652
Patient UK	Edwards syndrome
MeSH	C580500
Orphanet	3380
	[edit on Wikidata]

　　[★]

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

不良である。10%では1年以上生存する。

http://emedicine.medscape.com/article/943463-media

「Edward」

　　[★] 　　　　　　　　　　

「syndrome」

　　[★]

n.

症候群

[1] "Edwards syndrome (John Hilton Edwards)". WhoNamedIt.com. Retrieved 2008-07-24.

[autogenerated1-2] "Health: Edwards syndrome". BBC. Archived from the original on December 2, 2011. Retrieved 2012-01-04.

[What_is-3] "What is Trisomy 18?". Trisomy 18 Foundation. Retrieved 2008-07-24.

[medline-4] "Trisomy 18". Medline. Retrieved 2008-07-24.

[pmid17357350-5] Hurt K, Sottner O, Záhumenský J, et al. (2007). "[Choroid plexus cysts and risk of trisomy 18. Modifications regarding maternal age and markers]". Ceska Gynekol (in Czech) 72 (1): 49–52. PMID 17357350.

[pmid17206726-6] Papp C, Ban Z, Szigeti Z, Csaba A, Beke A, Papp Z (2007). "Role of second trimester sonography in detecting trisomy 18: a review of 70 cases". J Clin Ultrasound 35 (2): 68–72. doi:10.1002/jcu.20290. PMID 17206726.

[emed-7] Chen, MD, Harold. "Introduction to Trisomy 18". EMedicine. Retrieved 2008-07-24.

[8] For a description of human karyotype see Mittleman, A. (editor) (1995). "An International System for Human Cytogenetic Nomeclature". Retrieved 2006-06-04.

[9] "National Down Syndrome Cytogenetic Register Annual Reports 2008/09".

[10] "Trisomy 18: MedlinePlus Medical Encyclopedia". Nlm.nih.gov. 2011-12-14. Retrieved 2012-01-04.

[11] Rodeck, Charles H.; Whittle, Martin J. (1999). Fetal Medicine: Basic Science and Clinical Practice. Elsevier Health Sciences. ISBN 0-443-05357-X.

[12] Zoler, Mitchel L. (March 1, 2003). "Trisomy 13 survival can exceed 1 year". OB/GYN News. Retrieved 2008-07-24.

[13] "Trisomy 13 survival can exceed 1 year | OB/GYN News". Find Articles. 2003-03-01. Retrieved 2012-01-04.

[14] "Edwards' Syndrome | Doctor | Patient UK". Patient.info. 2011-03-02. Retrieved 2012-01-04.

[15] "Prevalence and Incidence of Edwards Syndrome". Diseases Center-Edwards Syndrome. Adviware Pty Ltd. 2008-02-04. Retrieved 2008-02-17. mean maternal age for this disorder is 32½

匿名

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案内

案内

Edwards syndrome