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Topic: Trisomy 13


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In the News (Mon 30 Nov 09)

  
  Chromosome 13 (human) - Wikipedia, the free encyclopedia
Chromosome 13 is one of the 23 pairs of chromosomes in humans.
Trisomy 13: Trisomy 13 occurs when each cell in the body has three copies of chromosome 13 instead of the usual two copies.
In a small percentage of cases, trisomy 13 is caused by a rearrangement of chromosomal material between chromosome 13 and another chromosome.
en.wikipedia.org /wiki/Chromosome_13_(human)   (561 words)

  
 Lifespan's A - Z Health Information Library - Trisomy 13   (Site not responding. Last check: 2007-10-24)
Trisomy 13 is a syndrome associated with the presence of a third (extra) number 13 chromosome.
Trisomy 13 is associated with multiple abnormalities, including defects of the brain that lead to seizures, apnea, deafness, and eye abnormalities.
Trisomy 13 can be diagnosed prenatally by amniocentesis with chromosome studies of the amniotic cells.
www.lifespan.org /adam/healthillustratedencyclopedia/1/001660.html   (443 words)

  
 Trisomy 18 & 13 - Lucile Packard Children's Hospital
Again, trisomy 18 or trisomy 13 simply means there are three copies of the #18 chromosome (or of the #13 chromosome) present in each cell of the body, rather than the usual pair.
Trisomy 18 and trisomy 13 are genetic disorders that present a combination of birth defects including severe mental retardation, as well as health problems involving nearly every organ system in the body.
Because many babies born with trisomy 18 and trisomy 13 may not live beyond the first few days or weeks of life, it is possible that parents may have to face the fact that the baby may never go home from the hospital.
www.lpch.org /DiseaseHealthInfo/HealthLibrary/genetics/trisomy.html   (1727 words)

  
 TheFetus.net - Trisomy 13-Alberto Hernandez-Campos, MD
Mosaicism for trisomy 13 is associated with a milder degree of severity, with the mildest expression typically in the lowest levels of mosaicism.
If trisomy 13 is discovered in the prenatal period after 24 weeks of gestation or if the patient elects to continue the pregnancy diagnosed at an earlier gestational age, counseling that discusses the utility of performing a cesarean delivery for fetal indications is appropriate.
Population-based analyses of mortality in trisomy 13 and trisomy 18.
www.thefetus.net /page.php?id=1473   (1603 words)

  
 trisomy 13 syndrome - infos
Trisomy 13 Syndrome is a rare chromosomal disorder in which all or a portion of...
Trisomy 13 Syndrome is a rare chromosomal disorder in which all or a portion of chromosome 13 appears three times (trisomy) rather than twice in cells of the body.
Trisomy 13 Syndrome is a rare chromosomal disorder in which all or a portion of chromosome 13 appears...
www.angelfire.com /alt2/ang10/3/trisomy-13-syndrome.html   (363 words)

  
 Trisomy 13 mosaicism   (Site not responding. Last check: 2007-10-24)
Trisomy 13 (Patau syndrome) occurs in approximately 1 in 10,000 live births and mosaic trisomy 13 is thought to account for about 5% of these cases (Eubanks et al, 1998).
Individuals with mosaic trisomy 13 may present with a range of clinic findings, from the typical features of full trisomy 13 (severe mental retardation and multiple congenital anomalies) to more mild mental retardation or even normal intellectual function, milder physical features, and longer survival.
When trisomy 13 cells are detected at amniocentesis or fetal blood sampling, it is difficult to predict which cases will be mild and which will be severe.
www.medgen.ubc.ca /wrobinson/mosaic/trisomy13.htm   (945 words)

  
 Trisomy 13
Typically, trisomy 13 is recognizable at birth and sometimes even prior to birth due to abnormalities seen on a detailed look at the fetus with ultrasound.
Trisomy 13 is caused by the presence of an
A small percentage of people with trisomy 13 may have an extra chromosome 13 in some of their cells but not all of them (this is called mosaicism), or they may have an extra chromosome 13 attached to another chromosome (this is called translocation).
www.labcorp.com /genetics/genetic_disorders/trisomy_13.html   (868 words)

  
 ENLmedical.com: Conditions And Concerns: Medical Encyclopedia: Trisomy 13
Trisomy 13 (which occurs in about 1 out of every 20,000 live births) is seen at about half the rate of trisomy 18.
Trisomy 13 is associated with multiple abnormalities, including severe mental defects and defects of the brain that lead to seizures (hypsarrhythmia), apnea, deafness and ocular abnormalities.
Trisomy 13 occurs when an extra chromosome (chromosome #13) is present.
www.enlmedical.com /article/001660.htm   (429 words)

  
 Chromosomal Abnormalities: Trisomy 18, Trisomy 13
Trisomy 13, or Patau’s syndrome is the least common of the live-born trisomy disorders, with an incidence of 1 in 5000 to 1 in 2,000 live births, with affected males equal to affected females.
The major midline dysmorphic features of trisomy 13 are due to a defect in the fusion of the midline prechordial mesoderm in the first three weeks of gestation.
Trisomy 13 tends to present with more severe craniofacial and midline defects than are found in Trisomy 18 or 21.
pedclerk.bsd.uchicago.edu /chromosomalabnormalities.html   (454 words)

  
 Trisomy 13   (Site not responding. Last check: 2007-10-24)
The extra chromosome 13 is of maternal origin in 88 percent of the cases and of paternal origin in 12 percent of the cases.
Risk of trisomy 13 is well known to increase with increasing maternal age (Forrester and Merz, 1999; Carothers et al., 1999; Goldstein and Nielsen, 1988; Schreinemachers et al., 1982).
Trisomy 13 risk has been associated with increasing paternal age (Baty et al., 1994); however, once maternal age is taken into consideration the association with paternal age tends to disappear.
www.dshs.state.tx.us /birthdefects/risk/risk10-trisomy13.shtm   (1211 words)

  
 Trisomy 13
Trisomy 13 is a chromosomal disorder in which all or a portion of chromosome 13 appears three times (trisomy) rather than twice in cells of the body.
Some infants with Trisomy 13 Syndrome fail to grow or gain weight at the expected rate and have severe feeding difficulties, diminished muscle tone and episodes in which there is temporary cessation of breathing (apnea).
Moreover, this determination should be based on the burdens and benefits of the treatment itself, not based on the perception that continued life itself imposes a burden on the child nor on the hardships imposed on parents by raising a "handicapped" child.
www.ascensionhealth.org /ethics/public/issues/trisomy.asp   (703 words)

  
 Kia's Trisomy 13   (Site not responding. Last check: 2007-10-24)
Trisomy 13 (Patau's) Syndrome is a genetic disorder which occurs before birth.
Infants affected with Trisomy 13 tend to be small at birth.
Many parents wonder why Trisomy 13 occurred, but we know of nothing that either parent could have done that would have caused or prevented this from happening.
groups.msn.com /KiasTrisomy13/whatistrisomy13.msnw   (576 words)

  
 Fast Facts About Trisomy 13 - DrGreene.com
Trisomy 13 was first described in 1657, but four hundred fifty years of medical knowledge have not improved the outlook for children born with this syndrome.
Trisomy 13 is often detectable on ultrasound as early as 10 weeks.
A trisomy 13 translocation is not associated with mom's age, but is a hereditary chromosome problem.
www.drgreene.com /21_12.html   (432 words)

  
 Trisomy 18 & 13 - My Child Has - Children's Hospital Boston
Trisomy 18 is seen in about one in 4000 to one in 5000 births.
Trisomy 13 is seen in about one in 7500 to one in 10,000 births.
However, the average age of the mother at delivery of a baby with trisomy 18 is 32 years, and for trisomy 13, 31 years.
www.childrenshospital.org /az/Site1789/mainpageS1789P0.html   (1680 words)

  
 Trisomy 13 - Genetics Home Reference
Trisomy 13, also called Patau syndrome, is a chromosomal condition that is associated with severe mental retardation and certain physical abnormalities.
Trisomy 13 is a chromosomal condition related to chromosome 13.
Most cases of trisomy 13 are not inherited, but occur as random events during the formation of reproductive cells (eggs and sperm).
ghr.nlm.nih.gov /condition=patausyndrome   (787 words)

  
 Trisomy 13
Trisomy 13 syndrome is a disorder of human chromosomes which occurs in approximately 1 in 10,000 live born infants.
Trisomy 13 is due to the presence of an extra #13 chromosome.
The major implications of Trisomy 13 involve a predisposition to congenital malformations (birth defects) mentioned above, an increased mortality in infancy, and a developmental disability in older children.
journals.aol.com /patoco2/TrisomyDisorders/entries/873   (676 words)

  
 Medical Dictionary: Trisomy 13 - WrongDiagnosis.com
Trisomy 13 (medical condition): A rare and very severe chromosome disorder leading to mental retardation and physical defects.
Trisomy 13 is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
This means that Trisomy 13, or a subtype of Trisomy 13, affects less than 200,000 people in the US population.
www.wrongdiagnosis.com /medical/trisomy_13.htm   (268 words)

  
 A Trisomy 18 Journey - Trisomy 13, Patau's Syndrome Resources
These three trisomies: 13, 18, and 21, are the only full trisomies which have ever led to a live birth.
Mosaic trisomies occur when the extra chromosome is present in some (not all) of the cells, and partial trisomies occur when only part of an extra chromosome is present.
In addition, Trisomy 13 Facts from SOFT, is written by Dr. John Carey, probably the premier expert on Trisomy 13 and 18 in the world.
www.geocities.com /wilsfordmindy/trisomy13resources.html   (1521 words)

  
 Trisomy 18 and 13 | Cooper University Hospital   (Site not responding. Last check: 2007-10-24)
Trisomy 18 is seen in about one in 5,000 to 10,000 live births.
Trisomy 13 is seen in about one in every 5,000 live births.
Most babies with trisomy 18 have problems which affect all parts of the body in some way.
www.cooperhealth.org /content/greystone_17515.asp   (1700 words)

  
 Re: Trisomy 13
Trisomy 18 is the third of the common examples.
Trisomy results from the unequal separation of chromosomes during cell divison: non-disjunction is the technical term.
Trisomy 13 babies frequently are stillborn, less often reach full term and die in the newborn time.
www.medhelp.org /forums/maternal/archive/526.html   (594 words)

  
 Patau syndrome
Seventy-five to 80 percent of the cases of Patau syndrome are caused by a trisomy of chromosome 13.
Partial trisomy of the distal segment of chromosome 13 results in generally less severe, but still serious, symptoms and a distinctive facial appearance including a short upturned nose, a longer than usual area between the nose and upper lip (philtrum), bushy eyebrows, and tumors made up of blood capillaries on the forehead (frontal capillary hemangiomata).
Partial trisomy of the proximal segment of chromosome 13 is much less likely to be fatal and has been associated with a variety of facial features including a large nose, a short upper lip, and a receding jaw.
www.healthatoz.com /healthatoz/Atoz/ency/patau_syndrome.jsp   (2064 words)

  
 Trisomy 13 Support
Trisomy 13 Support Group Bulletin Board ~ A bulletin board set up for anyone who is facing a Trisomy 13 diagnosis, or anyone who would like to share their experience of Trisomy 13.
The Trisomy Net Ring was created for those who wish to share their web sites about Trisomy children and/or their families or have pages with information about this disorder and/or related problems.
Trisomy 13 support - MSN Group Families that have been through the diagnosis and crisis of Trisomy 13.
www.livingwithtrisomy13.org /trisomy-13-support.htm   (1665 words)

  
 Trisomy On-Line - Trisomy Support for Families by Families   (Site not responding. Last check: 2007-10-24)
Trisomy Online is a free email based support group that was formed in 1997 for families and professionals whose lives have been touched by the diagnosis of a trisomy condition.
It may be questions regarding prenatal testing, pregnancy, birth or living with a child who has a trisomy diagnosis.
This list is highly recommended for all who have questions regarding a trisomy regardless of the specific chromosome as there are often medical and para-medical professionals participating as well as families who have many years experience.
www.trisomyonline.org   (677 words)

  
 trisomy 13 - infos
When a child has an extra 13th chromosome, as is the case in trisomy 13, the genetic messages are...
Trisomy 13 occurs with a frequency of about 1 in 9000 newborns...
Trisomy 13 is associated with multiple abnormalities, including severe mental...
www.angelfire.com /alt2/ang10/3/trisomy-13.html   (324 words)

  
 Trisomy 13 syndrome definition - Medical Dictionary definitions of popular medical terms
Trisomy 13 syndrome: Condition with three rather than the normal two chromosomes #13.
The congenital malformations (birth defects) commonly include scalp defects, hemangiomas (blood vessel malformations) of the face and nape of the neck, cleft lip and palate, malformations of the heart and abdominal organs, and flexed fingers with extra digits.
The majority of trisomy 13 babies die soon after birth or in infancy.
www.medterms.com /script/main/art.asp?articlekey=5853   (233 words)

  
 Information On Trisomy 13 - DrGreene.com
Most children with trisomy 13 have some kind of heart defect, but a double-outlet right ventricle is uncommon.
Even so, the risk of having another baby with trisomy 13 is usually very low -- unless, as with your son, the trisomy 13 is a translocation.
Trisomy 13 is a desolate and difficult challenge that I wish you didn't have to face.
www.drgreene.com /21_614.html   (1045 words)

  
 eMedicine - Patau Syndrome : Article by Robert G Best, PhD, FACMG   (Site not responding. Last check: 2007-10-24)
If the diagnosis of trisomy 13 is discovered in the prenatal period after 24 weeks' gestation or if the patient elects to continue the pregnancy diagnosed at an earlier gestational age, counseling that discusses the futility of performing a cesarean delivery for fetal indications is appropriate.
Patau syndrome may occur as a freestanding trisomy of chromosome 13 or, more rarely, as a Robertsonian translocation with an extra copy of chromosome 13 attached to another acrocentric chromosome (eg, 13-15, 21, 22) or as a structural chromosome abnormality wherein only a part of chromosome 13 is duplicated.
Living With Trisomy 13 is another organization with information for families and physicians.
www.emedicine.com /ped/topic1745.htm   (2146 words)

  
 Trisomy 13 Syndrome
In individuals with Trisomy 13 Syndrome, the range and severity of associated symptoms and findings may depend on the specific location of the duplicated (trisomic) portion of chromosome 1, as well as the percentage of cells containing the abnormality.
For example, characteristic heart defects may include an abnormal opening in the partition dividing the upper or lower chambers of the heart (atrial or ventricular septal defects) or persistence of the fetal opening between the two major arteries (aorta, pulmonary artery) emerging from the heart (patent ductus arteriosus).
Many infants with Trisomy 13 Syndrome fail to grow and gain weight at the expected rate (failure to thrive) and have severe feeding difficulties, diminished muscle tone (hypotonia), and episodes in which there is temporary cessation of spontaneous berathing (apnea).
www.webmd.com /hw/health_guide_atoz/nord218.asp   (666 words)

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