Factbites
 Where results make sense
About us   |   Why use us?   |   Reviews   |   PR   |   Contact us  

Topic: Patau syndrome


Related Topics

  
  Patau syndrome - Wikipedia, the free encyclopedia
Patau syndrome, also known as trisomy 13, is a chromosomal aberration, a disease in which a patient has an additional chromosome 13 due to a non disjunction of chromosomes during meiosis.
Patau syndrome is associated with severe mental retardation, small eyes that may exhibit a split in the iris (coloboma), a cleft lip and/or palate, weak muscle tone (hypotonia), an increased risk of heart defects, skeletal abnormalities, and other medical problems.
Most cases of Patau syndrome result from trisomy 13, which means each cell in the body has three copies of chromosome 13 instead of the usual two copies.
en.wikipedia.org /wiki/Patau_Syndrome   (718 words)

  
 Patau'S Syndrome | myhealth@wellmark   (Site not responding. Last check: 2007-11-04)
Patau syndrome, also called trisomy 13, is a congenital (present at birth) disorder associated with the presence of an extra copy of chromosome 13.
Seventy-five to 80 percent of the cases of Patau syndrome are caused by a trisomy of chromosome 13.
Patau syndrome is confirmed by the presence of three, rather than the normal two, copies of the thirteenth largest chromosome.
www.myhealthwellmark.com /topic/topic100587269   (2000 words)

  
 Patau syndrome - picture of patau syndrome
Patau syndrome is associated with severe mental retardation, small eyes that may exhibit a split in the iris (coloboma), a cleft lip who discovered patau syndrome and/or palate, weak muscle tone (hypotonia), an increased risk of heart defects, skeletal abnormalities, and other medical problems.
People with Patau patau syndrome trisomy 13 syndrome have additional patau syndrome tristy 13 DNA from chromosome 13 in some or all of their cells.
Most cases of Patau patau syndrome pedigree syndrome result from trisomy 13, which means each cell in the body has three copies of chromosome 13 instead of the usual two copies.
www.medicalgeo.com /Med-Diseases-P---Pn/Patau-syndrome.html   (600 words)

  
 eMedicine - Patau Syndrome : Article Excerpt by: Robert G Best, PhD, FACMG   (Site not responding. Last check: 2007-11-04)
Patau syndrome is generally recognized at birth by the presence of structural birth defects and poor neurologic performance.
Pathophysiology: Patau syndrome is caused by the presence of an extra copy of chromosome 13, generally present at conception and transmitted to every cell in the body.
Significant racial or geographic differences in frequency are not evident, although a well-known association exists between Patau syndrome and increased maternal age, an association common to all of the autosomal trisomies in fetuses that survive to term.
www.emedicine.com /ped/byname/patau-syndrome.htm   (630 words)

  
 trisomy 13 syndrome - infos
syndrome (trisomy 21) and Edwards syndrome (trisomy 18).
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)

  
 PATAU SYNDROME : Contact a Family - for families with disabled children: information on rare syndromes and disorders
Patau syndrome is a severe chromosomal abnormality in which the child has an extra chromosome 13.
Patau syndrome is characterised by low birth weight, heart defects, structural eye defects, cleft lip and/or palate, meningomyelocele (a spinal defect), omphalocele (abdominal defect), abnormal genitalia, low set ears, abnormal palmar crease patterns, scalp defects, extra digits and overlapping of fingers over thumb.
If Patau syndrome has been caused by an unbalanced translocation or any other unusual rearrangement, then it is very important that parents seek professional guidance from a clinical geneticist to determine if there is a significant risk of recurrence in a future pregnancy.
www.cafamily.org.uk /Direct/p12.html   (888 words)

  
 Patau syndrome - WrongDiagnosis.com
Patau syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
This means that Patau syndrome, or a subtype of Patau syndrome, affects less than 200,000 people in the US population.
Various sources and calculations are available in statistics about Patau syndrome, prevalence and incidence statistics for Patau syndrome, and you can also research other medical statistics in our statistics center.
www.wrongdiagnosis.com /p/patau_syndrome/intro.htm   (229 words)

  
 eMedicine - Patau Syndrome : Article by Robert G Best, PhD, FACMG   (Site not responding. Last check: 2007-11-04)
Age: Patau syndrome is expressed prenatally and is fully evident at birth.
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.
When Patau syndrome is suspected prenatally (usually because of the presence of ultrasonographic anomalies, history of chromosome abnormalities, or maternal age), trisomy 13 is best identified through conventional cytogenetic study of amniotic fluid, chorionic villi, or fetal blood.
www.emedicine.com /PED/topic1745.htm   (2146 words)

  
 bmj.com Rapid Responses for Locock et al., 331 (7526) 1186-1189
Patau Syndrome is the least common and the most severe of the autosomal trisomies.Survival is less than 3 days.
Patau syndrome is caused by the presence of an extra copy of chromosome 13, generally present at conception and transmitted to every cell in the body.In the US Incidence of Patau syndrome is approximately 1 case per 8,000-12,000 live births.A well-known association exists between Patau syndrome and increased maternal age.
When Patau Syndrome is suspected trisomy 13 is best detected through cytogenic study of amniotic fluid,chorionic villi or fetal blood.If fluorescent in situ hybridization (FISH) on interphase cells is used to obtain a rapid diagnosis, confirm results with conventional cytogenetic methods.
bmj.bmjjournals.com /cgi/eletters/331/7526/1186?ehom   (2054 words)

  
 Patau syndrome with a long survival. A case report
Its importance is due to its association with numerous malformations of the central nervous system, the cardiac and circulatory system, and the urogenital system, in addition to a limited survival rate.
The Patau syndrome phenotype typically includes severe central nervous system malformations, such as holoprosencephaly and arinencephaly, with consequent severe psychomotor dysfunction and convulsions (Thompson and Thompson, 1993).
The alopecia in four circular foci in the lambda region was due to the scars of the imperfect closure of the neural tube, a common finding in trisomy 13 carriers.
www.funpecrp.com.br /gmr/year2004/vol2-3/gmr0072_full_text.htm   (1581 words)

  
 S.O.F.T UK   (Site not responding. Last check: 2007-11-04)
Patau's syndrome (Trisomy 13) affects 1 in 4,000 births with equal numbers of boys and girls affected.
These syndromes are as common as cystic fibrosis and more frequent than muscular dystrophy or neurofibromatosis, yet very few people have ever heard of Trisomy 13 or 18.
Patau's syndrome and Edwards' syndrome are the most common chromosome disorders after Down's syndrome (Trisomy 21).
www.soft.org.uk   (302 words)

  
 Lecture 1, Genetics   (Site not responding. Last check: 2007-11-04)
Down syndrome is caused by a trisomy of chromosome 21, the smallest of the autosomes.
Edwards syndrome is caused by a trisomy of chromosome 18.
Infants with Patau syndrome are mentally retarded, appear to be deaf, and have numerous physical abnormalities.
www.utpb.edu /scimath/kovalick/genetics/lecture11a.htm   (2233 words)

  
 Syndromes of Head & Neck & Developmental Anomalies
Trisomy 21 (Down´s Syndrome) A genetic disorder occurring due to the failure of a pair of chromosomes to separate at meiosis.
Laband´s Syndrome A syndrome of gingival fibromatosis, hepatosplenomegaly, and anomalies of the nose, bones, and nails, occasionally associated with mental retardation.
Peutz-Jeghers Syndrome Hereditary condition in which an individual typically develops precancerous polyps in the intestines in their teen years or later, and have freckle-like spots on the lips, around the mouth, and on the fingers.
www.dental.mu.edu /oralpath/surg/syndev.htm   (1113 words)

  
 BBC - Health - Ask the doctor - Patau's syndrome   (Site not responding. Last check: 2007-11-04)
Patau's syndrome is a rare inherited abnormality of the chromosomes, also known as trisomy-13.
In Patau's syndrome there are three copies of chromosome number 13.
In a few children born with Patau's only some of the cells have three copies of the chromosome (known as a mosaic), while in others the extra chromosome has fused on to another chromosome (known as a translocation).
www.bbc.co.uk /health/ask_the_doctor/patau.shtml   (402 words)

  
 Trisomy 18 : Edward's syndrome (a case report of 3 cases). Bharucha BA, Agarwal UM, Savliwala AS, Kolluri RR, Kumta NB ...
Trisomy 18 is the second most common multiple malformation syndrome due to chromosomal aberration with an incidence of 1:3500 to 1:7000 newborns as shown in various studies.
Edward's et al[2] in 1960, Patau et al[5] in 1961 and Smith et al[6] in 1960 first recognised this condition with particular cluster of malformations occurring in babies with extra chromosomes in 17-18 group.
Natural history of the syndrome is one of limited survival, 80% die in the first month, 50% die by 2 months, 90% by 1 year and remaining 10% are mentally retarded.
www.jpgmonline.com /article.asp?issn=0022-3859;year=1983;volume=29;issue=2;spage=129;epage=32;aulast=Bharucha   (776 words)

  
 What are Trisomy Disorders
Down syndrome, Edward syndrome and Patau syndrome are the most common forms of trisomy.
Edward syndrome is also known as Trisomy 18, because the person has three copies of chromosome 18 instead of two.
Patau syndrome is also known as Trisomy 13, because the person has three copies of chromosome 13 instead of two.
journals.aol.com /patoco2/TrisomyDisorders/entries/798   (827 words)

  
 Patau's syndrome Encyclopedia of Medicine - FindArticles   (Site not responding. Last check: 2007-11-04)
Patau's syndrome, also called trisomy 13, occurs when a child is born with three copies of chromosome 13.
In the case of Patau's syndrome, an embryo develops which has three copies of chromosome 13, rather than the normal two copies.
Patau's syndrome is caused by the presence of three copies of chromosome 13.
www.findarticles.com /p/articles/mi_g2601/is_0010/ai_2601001030   (451 words)

  
 TheFetus.net - Trisomy 13-Alberto Hernandez-Campos, MD
Synonyms: Trisomy 13, Bartholin-Patau Syndrome, Trisomy D1 Definition: Trisomy 13 refers to an extra copy of chromosome 13 which is a medium-length acrocentric chromosome.
Prevalence: The prevalence of the syndrome is approximately 1-2:10,000.
Trisomy 13 (Patau’s syndrome): a rare case of survival into adulthood.
www.thefetus.net /page.php?id=1473   (1603 words)

  
 Trisomy 13 Syndrome
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).
Trisomy 13 Syndrome is also frequently characterized by variable degrees of holoprosencephaly, a condition in which the forebrain fails to divide properly during embryonic development.
In most individuals with Trisomy 13 Syndrome, duplication of chromosome 13 is caused by spontaneous (de novo) errors during the division of reproductive cells in one of the parents (e.g., nondisjunction during meiosis).
hw.healthdialog.com /kbase/nord/nord218.htm   (2684 words)

  
 What is Down Syndrome?   (Site not responding. Last check: 2007-11-04)
A person with Mosaic Down syndrome may exhibit all, some, or none of the characteristics of Down syndrome depending on the percent of cells carrying the extra chromosome and where these cells are located.
In all cases of Down syndrome but especially in cases of Translocation Down syndrome, it is important that the parents have genetic counseling to determine their risk.
A woman is more likely to have a child with Down syndrome as she grows older with a sharp rise in risk at 35-40 years of age.
www.downsyn.com /whatisds.html   (1109 words)

  
 A Trisomy 18 Journey - Trisomy 13, Patau's Syndrome Resources
It is also called Patau's syndrome, and is the third most common trisomy, after Trisomy 21 (Down syndrome) and Trisomy 18 (Edwards Syndrome).
Like Edwards syndrome, Patau's Syndrome is usually fatal, with most of the babies dying before birth and those who do make it to birth typically living only a few days.
There are several sites which list the symptoms of Patau's Syndrome from a medical standpoint: Medline Plus Trisomy 13 is one, Lucille Packard Children's Hospital Medical Genetics Trisomy 18 and 13 is another, as well as Pediatric Health Encyclopedia Trisomy 13.
www.geocities.com /wilsfordmindy/trisomy13resources.html   (1521 words)

  
 Trisomy Disorders
The symptoms of Patau syndrome are evident at birth.
Parents of a child born with Patau syndrome will receive genetic counseling to determine what their risk is of having another child with the syndrome.
Because of the high incidence of obstructive sleep apnea syndrome in young children with Down syndrome, and the poor correlation between parental impressions of sleep problems and PSG results, baseline PSG is recommended in all children with Down syndrome at age 3 to 4 years.
journals.aol.com /patoco2/TrisomyDisorders   (6262 words)

  
 Patau Syndrome (trisomy 13 Syndrome) - Talk Medical
Patau syndrome (trisomy 13 syndrome): A syndrome characterized by multiple malformations, commonly including 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.
Patients with Patau syndrome are also profoundly mentally retarded.
This syndrome is due to the presence of an extra chromosome 13 (trisomy 13).
www.talkmedical.com /medical-dictionary/10757/Patau-Syndrome-trisomy-13-Syndrome-   (122 words)

Try your search on: Qwika (all wikis)

Factbites
  About us   |   Why use us?   |   Reviews   |   Press   |   Contact us  
Copyright © 2005-2007 www.factbites.com Usage implies agreement with terms.