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

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/06/06 20:26:53」(JST)

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Edwards syndrome (also known as Trisomy 18 [T18]) is a genetic disorder 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's syndrome, that carries to term.

Edwards syndrome occurs in around one in 6,000 live births and around 80 percent 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 [edit]

Children born with Edwards syndrome may have some or all of the following 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, mental retardation, 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]

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

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 [edit]

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 [edit]

In 2008/2009, there were 495 diagnoses of Edwards syndrome (trisomy 18) in England and Wales, 92% of which were made prenatally. There were 339 abortions, 49 stillbirths/miscarriages/fetal deaths, 72 unknown outcomes, and 35 live births.^[9] Because approximately 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 infants with this condition do not survive beyond the first week of life.^[10] The median lifespan is 5–15 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] Parents with surviving children who take part in support groups report that these children enriched their family and their couple irrespective of the length of their lives.^[14]

Epidemiology [edit]

Edwards syndrome occurs in approximately 1 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]^[15] Although women in their 20s and early 30s may conceive babies with Edwards syndrome, the risk of conceiving a child with Edwards syndrome increases with a woman's age. The average maternal age for conceiving a child with this disorder is 32½.^[16]

References [edit]

^ "Edwards syndrome (John Hilton Edwards)". WhoNamedIt.com. Retrieved 2008-07-24.
^ ^a ^b ^c "Health: Edwards syndrome". BBC. 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.
^ Janvier, Annie; Farlow Wilfond (July 23, 2012). "The experience of families with children with trisomy 13 and 18 in social networks.". Pediatrics 130 (2): 293–298. doi:10.1542/peds.2012-0151. PMID 22826570.
^ "Edwards' Syndrome | Doctor | Patient UK". Patient.co.uk. 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 [edit]

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. 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. 緩和ケア：医学的に無益で、不適切な/推奨できない可能性のある療法 palliative care medically futile and potentially inappropriate inadvisable therapies
5. 遺伝的変異の概要 overview of genetic variation

English Journal

Meta-analysis of second-trimester markers for trisomy 21.

Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH.SourceHarris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.Ultrasound Obstet Gynecol.2012 Dec 3. doi: 10.1002/uog.12364. [Epub ahead of print]
Objective: A meta-analysis was performed to summarize the accumulated data on the screening performance of second-trimester sonographic markers for fetal trisomy 21. Methods: We conducted a literature search to identify 47 studies between 1995 and September 2012 that provided data on the incidence o
PMID 23208748

Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies.

Jiang F, Ren J, Chen F, Zhou Y, Xie J, Dan S, Su Y, Xie J, Yin B, Su W, Zhang H, Wang W, Chai X, Lin L, Guo H, Li Q, Li P, Yuan Y, Pan X, Li Y, Liu L, Chen H, Xuan Z, Chen S, Zhang C, Zhang H, Tian Z, Zhang Z, Jiang H, Zhao L, Zheng W, Li S, Li Y, Wang J, Wang J, Zhang X.AbstractABSTRACT: BACKGROUND: Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy.
BMC medical genomics.BMC Med Genomics.2012 Dec 1;5(1):57. [Epub ahead of print]
ABSTRACT: BACKGROUND: Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy.METHODS: We developed an advanced noninvasive prenatal diagnosis method based on massively parallel sequencing. The Noninvasive Fetal Trisomy (NIFTY) te
PMID 23198897

Japanese Journal

Gain of 11q by an Additional Ring Chromosome 11 and Trisomy 18 in CD5-Positive Intravascular Large B-Cell Lymphoma

Yamamoto Katsuya,Yakushijin Kimikazu,Okamura Atsuo,Hayashi Yoshitake,Matsuoka Hiroshi,Minami Hironobu
Journal of Clinical and Experimental Hematopathology 53(2), 161-165, 2013
… G-banding and spectral karyotyping of the bone marrow cells demonstrated a complex karyotype as follows : 48,XX,-8,+r(11),+12,del(12)(p?) ×2,+18,der(19)(19?::p13→qter),der(21)t(8;21)(q11.2;p11.2). … Together with other reported cases, our results indicate that the gain of 11q as well as trisomy 18 may be among the recurrent chromosomal aberrations in IVLBCL. …
NAID 130003366803

肥厚性幽門狭窄症の合併に対して十二指腸栄養チューブで経過をみた18トリソミーの1例

今井憲,内山温,柴田直昭,青柳裕之,鷲尾洋介,増本健一,戸津五月,中西秀彦,吉田竜二,世川修,楠田聡
日本周産期・新生児医学会雑誌 = Journal of Japan Society of Perinatal and Neonatal Medicine 48(3), 687-691, 2012-08-30
NAID 10031048714

当院における18トリソミー児の分娩管理と予後の検討

安部加奈子,濱田洋実,岩城真奈美,野口里枝,大原玲奈,豊田真紀,永井優子,小倉剛,小畠真奈,吉川裕之
日本周産期・新生児医学会雑誌 = Journal of Japan Society of Perinatal and Neonatal Medicine 48(3), 625-630, 2012-08-30
NAID 10031048555

Related Pictures

★リンクテーブル★

リンク元	「トリソミー」「18トリソミー」「clenched hand」「手指重畳」

「トリソミー」

Trisomy 18, Edwards Syndrome
	Classification and external resources
	; Chromosome 18
ICD-10	Q91.0-Q91.3
ICD-9	758.2
DiseasesDB	13378
MedlinePlus	001661
eMedicine	ped/652

　　[★]

英: trisomy
同: 三染色体、三染色体性

first aid step1 2006 p.110

染色体が3本ある