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| | Patau syndrome with a long survival. A case report |
 | | trisomy is a clinically severe condition first described by Patau et al. | | | 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). | | | Neuropsychomotor development retardation was evident from birth and, according to the psychologist and the social assistant of APAE (Handicapped Parents and Friends Association) in Canguçu, Rio Grande do Sul, there was a noticeable improvement after physiotherapy and recreational sessions. |
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http://www.funpecrp.com.br/gmr/year2004/vol2-3/gmr0072_full_text.htm
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| | Syndromes of Head & Neck & Developmental Anomalies |
| | 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. | | | Turner´s Syndrome · short stature · webbed neck · a hollow appearance to the chest · lack of secondary sex characteristics (failure to develop at puberty) · infertility · low hairline · "droopy" eyelids. | | | Both types of clefts result from an incomplete fusion of skin, muscle, or bone during early fetal development (between the fifth and twelfth week of pregnancy). |
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http://www.dental.mu.edu/oralpath/surg/syndev.htm
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| | Case Based Pediatrics Chapter |
| | Klaus Patau and his colleagues were the first to attribute the syndrome of trisomy for chromosome 13 by cytogenetic analysis in 1960. | | | Trisomy 18 (Edwards Syndrome or Trisomy E) Infants with trisomy 18 are severely affected and usually die in the first week of life. | | | It is very important to counsel parents who have one child with Down syndrome about the risk of having a second affected child. |
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http://www.hawaii.edu/medicine/pediatrics/pedtext/s04c03.html
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| | eMedicine - Patau Syndrome : Article by Robert G Best, PhD, FACMG |
| | Medical literature provides little information on the use of specific drugs to treat Patau syndrome. | | | 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. | | | Patau syndrome is generally recognized at birth by the presence of structural birth defects and poor neurologic performance. |
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http://www.emedicine.com/ped/topic1745.htm
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| | A Trisomy 18 Journey - Down Syndrome Resources |
| | A level 2 ultrasound is usually performed by a perinatologist or someone else who specializes in high-risk pregnancies. | | | I never dreamed I would have a child with Edwards Syndrome. | | | I am not a medical professional and the information included here is no substitute for medical advice; please consult your doctor. |
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http://www.geocities.com/wilsfordmindy/downsyndromeresources.html
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| | Trisomy 13 Syndrome |
| | Myelomeningocele is characterized by protrusion of a membranous sac containing a portion of the spinal cord, its meninges, and CSF through a defect in the spinal column. | | | In infants with PDA, the channel that is present between the pulmonary artery and the aorta during fetal development fails to close after birth. | | | A supportive team approach for children with this disorder may be of benefit and may include physical therapy, medical, and/or social services. |
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http://hw.healthdialog.com/kbase/nord/nord218.htm
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| | What is Trisomy 13 |
| | Due to the severity of these conditions, fewer than 20% of those affected with Patau syndrome survive beyond infancy. | | | Patau syndrome, named after the person who discovered it back in 1960, indicates the presence of an extra copy of chromosome 13. | | | Trisomy 13 (Patau's) Syndrome is a genetic disorder which occurs before birth. |
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http://www.babytoto.co.uk/T13.htm
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| | S.O.F.T UK - About S.O.F.T. UK |
| | Trisomy 13 was named Patau's Syndrome after the doctor who identified the chromosomes responsible in 1960, and Trisomy 18 or Edwardes' syndrome was named after Dr John Edwardes for the same reason. | | | Trisomy 13 affects 1 in 4000 births with equal numbers of girls and boys affected, and Trisomy 18 affects 1 in 3000 births with three times as many girls affected. | | | S.O.F.T. Link List, a service linking families who wish to share common problems associated with care, grief, relationships, and bereavement. |
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http://www.soft.org.uk/about.htm
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| | Patau's syndrome Vhi Healthcare |
| | Patau syndrome is named for Dr. Klaus Patau, who reported the syndrome and its association with trisomy in 1960. | | | Patau syndrome affected individuals may be born either partially or totally deaf and many are subject to recurring ear infections. | | | Seventy-five to 80 percent of the cases of Patau syndrome are caused by a trisomy of chromosome 13. |
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http://www2.vhihealthe.com/article/gale/100083828
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| | Trisomy 18 : Edward's syndrome (a case report of 3 cases). Bharucha BA, Agarwal UM, Savliwala AS, Kolluri RR, Kumta NB J Postgrad Med |
| | 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. | | | 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. | | | Multiple malformations as seen in 75% patients of trisomy 18 are enumerated and compared with our cases in [Table 1]. |
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http://www.jpgmonline.com/article.asp?issn=0022-3859;year=1983;volume=29;issue=2;spage=129;epage=32;aulast=Bharucha
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| | TheFetus.net - Trisomy 13-Alberto Hernandez-Campos, MD |
| | History: This condition was first identified as a cytogenetic syndrome in 1960 by Patau et al. | | | Trisomy 13 (Pataus syndrome): a rare case of survival into adulthood. | | | 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. |
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http://www.thefetus.net/page.php?id=1473
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| | Trisomy 13 Photos - Pictures of Trisomy 13 Children |
| | please visit Tracking Rare Incidence Syndromes (TRIS) and find out how adding your information to their database can help increase Trisomy awareness. | | | To include your child's data and help update the medical literature please see: | | | S.O.F.T. is a nonprofit volunteer organization offering support for parents who have had a child with a chromosome disorder, and education to families and professionals interested in the care of these children. |
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http://livingwithtrisomy13.org/trisomy-13-support.htm
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| | Birth defects - trisomy disorders |
| | Down syndrome, Edward syndrome and Patau syndrome are the most common forms of trisomy. | | | Patau syndrome is also known as Trisomy 13, because the person has three copies of chromosome 13 instead of two. | | | Trisomy ('three bodies') means the affected person has 47 chromosomes instead of 46. |
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http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/(Pages)/Birth_defects_trisomy_disorders
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| | EPOS - European Paediatric Ophthalmological Society |
| | A Case of Patau Syndrome with Congenital Ocular Anomaly | | | Purpose:To report a case of newborn infant with Patau syndrome who showed typical ocular and systemic anomalies. | | | Conclusion: Patau syndrome, a trisomy of number 13 chromosome, is a rare congenital chromosomal anomaly accompanying many abnormalities of cardiovascular and central nervous system, kidney and extremity, face and eye. |
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http://www.epos-focus.org/meeting/2002/showabstract.php?id=7
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| | Living with Trisomy 13 - Photos and Videos |
| | This site focuses on bringing the families of beautiful Trisomy 13 Syndrome (Patau Syndrome) children together. | | | Patau's Syndrome, a Chromosomal Abnormality diagnosis, can be overwhelming. | | | We believe each new life is a precious miracle and encourage growing in love to embrace life from conception to death. |
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http://www.livingwithtrisomy13.org
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| | babyworld - pregnancy - antenatal testing - what are the tests looking for? |
| | Other genetic conditions which antenatal tests such as chorionic villus sampling and amniocentesis can diagnose, are Edward’s and Patau’s syndromes. | | | Like Down’s, these conditions are caused by the baby having extra bits of genetic information. | | | People who have Down’s syndrome have an extra bit of genetic information in each of their body cells. |
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http://www.babyworld.co.uk/information/pregnancy/antenatal_testing/what_are_test_looking_for.htm
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| | Patau syndrome |
| | La Muse Answer 1: Patau's syndrome causes eye abnormalities (ranging from cyclopia to no eyes to small, abnormal eyes which may or may not be blind, to normal vision), cleft lip/palate is common but variable in its extent. | | | Question: A faculty member at our high school asked us to find more information about the genetic disorder discovered through amniocentesis, called trisomy 13 (patau syndrome). | | | Anatomical difficulties are the least of the problems, since they can often be repaired with surgery. |
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http://www.newton.dep.anl.gov/askasci/bio99/bio99299.htm
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| | babyworld - your baby - special needs - patau's syndrome |
| | In Patau’s syndrome the baby’s face and limbs do not form properly and the heart, kidneys and brain may be affected. | | | A baby who has this condition has an extra thirteenth chromosome. | | | Most children with this condition only live for two to three years. |
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http://www.babyworld.co.uk/information/baby/special_needs/patau.asp
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| | Specialty Laboratories ::: we help doctors help patients |
| | Michael Watson, M.D. Trisomy 13 or Patau syndrome | | | Ocular abnormalities in Patau syndrome (chromosome 13 trisomy syndrome). | | | Specialty Laboratories ::: we help doctors help patients |
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http://www.specialtylabs.com/books/display.asp?id=1180
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| | Encyclopedia topic: Patau syndrome |
| | Patau syndrome, also known as Trisomy 13, is a chromosomal (additional info and facts about chromosomal) aberration, a disease (An impairment of health or a condition of abnormal functioning) in which a patient has an additional chromosome 13. | | | Although they do not have signs of Patau syndrome, people who carry this type of balanced translocation are at an increased risk of having children with the condition. | | | People with Patau syndrome have additional DNA ((biochemistry) a long linear polymer found in the nucleus of a cell and formed from nucleotides and shaped like a double helix; associated with the transmission of genetic information) from chromosome 13 in some or all of their cells. |
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http://www.absoluteastronomy.com/encyclopedia/p/pa/patau_syndrome.htm
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| | Trisomy 13 |
| | To find more information on specific conditions, please visit our partner sites: | | | Trisomy 13 is a syndrome associated with the presence of a third (extra) number 13 chromosome. | | | It is a syndrome with multiple abnormalities, many of which are not compatible with more than a few months of life. |
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http://www.healthcentral.com/ency/408/001660.html
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| | Patau syndrome |
| | Patau syndrome is a chromosomal condition that 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. | | | Home > Conditions > P > Patau syndrome | | | Bartholin-Patau syndrome; Chromosomal imbalance syndrome, pair 13, trisomy; chromosome 13 trisomy syndrome; D1 Trisomy; Trisomy 13 syndrome |
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http://goldbamboo.com/topic-t6837.html
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| | Bartholin-Patau syndrome (Thomas Bartholin) (www.whonamedit.com) |
| | Cytogenetic first description in 1960 by Klaus Patau and collaborators in one patient. | | | The clinical picture of a patient described by Thomas Bartholin in 1656 may with certainty be classified as trisomy 13. | | | Hypography is an open community about science and all things related |
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http://www.whonamedit.com/synd.cfm/1024.html
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| | Patau syndrome - TheBestLinks.com - Abdomen, Chromosome, Disease, Genitalia, ... |
| | Patau syndrome, also known as Trisomy 13, is a chromosomal aberration, a disease in which a patient has an additional chromosome 13. | | | Most babies suffering from Patau syndrome will not survive infancy; those who do will suffer from a learning disability. | | | Patau syndrome, Abdomen, Chromosome, Disease, Genitalia, Palm, Finger, Spine... |
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http://www.thebestlinks.com/Patau_syndrome.html
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| | patau syndrome trisomy 13 |
| | Patau syndrome, also known as Trisomy 13, is a chromosomal aberration, a disease in which a patient has an additional chromosome 13. | | | Resources for supporting families of babies diagnosed with Trisomy 13 (Patau's syndrome). | | | Patau's syndrome, also called trisomy 13, occurs when a child is born with three copies of chromosome 13. |
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http://www.touchofclasscomfortinn.com/patau-syndrome-trisomy-13.html
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| | S.O.F.T UK |
| | Patau's syndrome and Edwardes' syndrome are the most common chromosome disorders after Down's syndrome (Trisomy 21). | | | Patau's syndrome (Trisomy 13) affects 1 in 4,000 births with equal numbers of boys and girls affected. | | | Finding out that your baby has a disorder that you may have never heard of is alarming and brings all sorts of anxieties. |
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http://www.soft.org.uk
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| | AMA (Virtual Mentor) Clinical Case |
| | With regard to the care of a newborn with multiple life-threatening congenital anomalies such as trisomy 13 or Patau syndrome, it’s preferable to provide the care available and let the baby take the natural course if symptoms worsen despite the medical care. | | | Patau syndrome, otherwise known as trisomy 13, is the fourth most common autosomal disorder. | | | It should be noted that the majority of physicians do have religious belief systems and are probably open to the reasonable religious concerns of their patients [6]. |
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http://www.ama-assn.org/ama/pub/category/print/14978.html
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| | What is Down Syndrome? |
| | Down syndrome occurs in all races, in all socio-economic conditions, and in all countries. | | | These conditions are rarer than Down syndrome and have their own characteristics which are different than Down syndrome. | | | Research, however, is continuing and a breakthrough may provide possible treatments to lessen the effects. |
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http://www.downsyn.com/whatisds.html
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| | Gale Encyclopedia of Medicine: Polydactyly and syndactyly |
| | Polydactyly may also be present in Patau's syndrome, asphyxiating thoracic dystrophy, hereditary spherocytic hemolytic anemia, Moebius syndrome, VACTERL association, and Klippel-Trenaunay syndrome. | | | Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome. | | | For example, polydactyly is a characteristic of Meckel syndrome and Laurence-Moon-Biedl syndrome. |
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http://www.findarticles.com/p/articles/mi_g2601/is_0010/ai_2601001089
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