Complete trisomy 8 causes severe abnormalities on the developing fetus and can be a cause of miscarriage.[2][3] Complete trisomy 8 is usually a gestational lethal condition, whereas trisomy 8 mosaicism is less severe and individuals with a low proportion of affected cells may exhibit a comparatively mild range of physical abnormalities and developmental delay.[4] Individuals with trisomy 8 mosaicism are more likely to survive into childhood and adulthood, and exhibit a characteristic and recognizable pattern of developmental abnormalities. Common findings include stunted psychomotor development, moderate to severe intellectual disability, variable growth patterns which can result in either abnormally short or tall stature, an expressionless face, and many musculoskeletal, visceral, and eye abnormalities, as well as other anomalies.[5] A deep plantar furrow is considered to be pathognomonic of this condition, especially when seen in combination with other associated features.[6] The type and severity of symptoms are dependent upon the prevalence of the affected cells and their location within the body.[citation needed]
Other conditionsedit
Trisomy 8 mosaicism affects wide areas of chromosome 8, containing many genes, and can thus be associated with a range of symptoms.
Some individuals trisomic for chromosome 8 were deficient in production of coagulation factor VII due to a factor 7 regulation gene (F7R) mapped to 8p23.3-p23.1.[8]
Small regions of chromosome 8 trisomy and monosomy are also created by recombinant chromosome 8 syndrome (San Luis Valley syndrome), causing anomalies associated with tetralogy of Fallot, which results from recombination between a typical chromosome 8 and one carrying a parental paracentric inversion.[10]
The simplest and easiest way to detect trisomy 8 is by a karyotype, a photograph representing all chromosomes of a cell in an orderly manner. Amniocentesis is also a technique for diagnosis. Samples from the amniotic fluid are taken from a fetus, cultured, then analyzed by a karyotype. If the photograph shows 3 copies of chromosome 8 instead of 2, then the individual has trisomy 8.
^"MIM ID #268400 ROTHMUND-THOMSON SYNDROME; RTS". NCBI/OMIM.
^"MIM ID *134450 FACTOR VII REGULATOR; F7R". NCBI/OMIM.
^"MIM ID #190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1". NCBI/OMIM.
^"MIM ID #179613 RECOMBINANT CHROMOSOME 8 SYNDROME". NCBI/OMIM.
External linksedit
U.S. National Library of Medicine: Warkany Syndrome 2
April 14, 2024
trisomy, causes, warkany, syndrome, human, chromosomal, disorder, caused, having, three, copies, trisomy, chromosome, appear, with, without, mosaicism, chromosome, 8specialtymedical, genetics, causesthree, copies, chromosome, contents, characteristics, other, . Trisomy 8 causes Warkany syndrome 2 1 a human chromosomal disorder caused by having three copies trisomy of chromosome 8 It can appear with or without mosaicism Trisomy 8Chromosome 8SpecialtyMedical genetics Causesthree copies of chromosome 8 Contents 1 Characteristics 1 1 Other conditions 2 Diagnosis 3 See also 4 References 5 External linksCharacteristics editComplete trisomy 8 causes severe abnormalities on the developing fetus and can be a cause of miscarriage 2 3 Complete trisomy 8 is usually a gestational lethal condition whereas trisomy 8 mosaicism is less severe and individuals with a low proportion of affected cells may exhibit a comparatively mild range of physical abnormalities and developmental delay 4 Individuals with trisomy 8 mosaicism are more likely to survive into childhood and adulthood and exhibit a characteristic and recognizable pattern of developmental abnormalities Common findings include stunted psychomotor development moderate to severe intellectual disability variable growth patterns which can result in either abnormally short or tall stature an expressionless face and many musculoskeletal visceral and eye abnormalities as well as other anomalies 5 A deep plantar furrow is considered to be pathognomonic of this condition especially when seen in combination with other associated features 6 The type and severity of symptoms are dependent upon the prevalence of the affected cells and their location within the body citation needed Other conditions edit Trisomy 8 mosaicism affects wide areas of chromosome 8 containing many genes and can thus be associated with a range of symptoms Mosaic trisomy 8 has been reported in rare cases of Rothmund Thomson syndrome a genetic disorder associated with the DNA helicase RECQL4 on chromosome 8q24 3 The syndrome is characterized by skin atrophy telangiectasia hyper and hypopigmentation congenital skeletal abnormalities short stature premature aging and increased risk of malignant disease 7 Some individuals trisomic for chromosome 8 were deficient in production of coagulation factor VII due to a factor 7 regulation gene F7R mapped to 8p23 3 p23 1 8 Trisomy and other rearrangements of chromosome 8 have also been found in tricho rhino phalangeal syndrome 9 Small regions of chromosome 8 trisomy and monosomy are also created by recombinant chromosome 8 syndrome San Luis Valley syndrome causing anomalies associated with tetralogy of Fallot which results from recombination between a typical chromosome 8 and one carrying a parental paracentric inversion 10 Trisomy is also found in some cases of chronic myeloid leukaemia potentially as a result of karyotypic instability caused by the bcr abl fusion gene Diagnosis editThe simplest and easiest way to detect trisomy 8 is by a karyotype a photograph representing all chromosomes of a cell in an orderly manner Amniocentesis is also a technique for diagnosis Samples from the amniotic fluid are taken from a fetus cultured then analyzed by a karyotype If the photograph shows 3 copies of chromosome 8 instead of 2 then the individual has trisomy 8 See also editWarkany syndrome 1References edit Diseases Database DDB 32656 Riccardi VM 1977 Trisomy 8 an international study of 70 patients Birth Defects Orig Artic Ser 13 3C 171 84 PMID 890109 Chen Chih Ping Chen Ming Pan Yi Ju Su Yi Ning Chern Schu Rern Tsai Fuu Jen Chen Yu Ting Wang Wayseen 2011 Prenatal diagnosis of mosaic trisomy 8 Clinical report and literature review Taiwanese Journal of Obstetrics and Gynecology 50 3 331 338 doi 10 1016 j tjog 2011 07 013 ISSN 1028 4559 PMID 22030049 Jones K L 2005 Smith s Recognizable Patterns of Human Malformation 6th ed Philadelphia W B Sanders Company Riccardi VM 1977 Trisomy 8 an international study of 70 patients Birth Defects Orig Artic Ser 13 3C 171 84 PMID 890109 Lai CC 1975 Trisomy 8 syndrome Clin Orthop Relat Res 110 110 238 43 doi 10 1097 00003086 197507000 00034 PMID 1157389 MIM ID 268400 ROTHMUND THOMSON SYNDROME RTS NCBI OMIM MIM ID 134450 FACTOR VII REGULATOR F7R NCBI OMIM MIM ID 190350 TRICHORHINOPHALANGEAL SYNDROME TYPE I TRPS1 NCBI OMIM MIM ID 179613 RECOMBINANT CHROMOSOME 8 SYNDROME NCBI OMIM External links editU S National Library of Medicine Warkany Syndrome 2 Retrieved from https en wikipedia org w index php title Trisomy 8 amp oldid 1148722412, wikipedia, wiki, book, books, library,
