Warkany syndrome 1Not to be confused with Trisomy 8, known as Warkany Syndrome 2

Warkany syndrome 1 was an X-chromosome linked recessive genetic condition originally described

by Joseph Warkany in 1961 as part of an article on intrauterine growth retardation[1] - the condition is no

longer diagnosed. The family history was consistent with X-linked recessive inheritance of intrauterine

growth retardation and small head size, but these features are not unique to this condition and no linkage

to a specific gene was ever established. In fact, the condition appears to have been abandoned, given that

theOMIM number (308400) assigned to it ([1]) and listed in a review article on X-linked mental

retardation[2] has been removed from the OMIM database. Furthermore, this condition is no longer

mentioned in a more recent review of X-linked mental retardation.[3]

Trisomy 8From Wikipedia, the free encyclopedia

Not to be confused with Warkany syndrome 1.

Trisomy 8

Chromosome 8

Classification and external resources

Specialty medical genetics

ICD-10 Q92

ICD-9-CM 758

DiseasesDB 32656

MeSH D014314

Trisomy 8, also known as Warkany syndrome 2,[1] is a human chromosomal disorder caused by having three copies (trisomy) ofchromosome 8. It can appear with or without mosaicism.

CharacteristicsComplete trisomy 8 causes severe effects on the developing fetus and can be a cause of miscarriage.[2] Complete trisomy 8 is usually an early 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. [3][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 retarded psychomotor development, moderate to severe mental retardation, 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 location and proportion of trisomy 8 cells compared to normal cells.

Other conditionsTrisomy 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.

Trisomy 8 Mosaicism Prognosis

If most or all cells have the extra chromosome, this is a condition known as

full or complete trisomy 8. Full trisomy 8 is fatal, often leading to miscarriage

in the first trimester of pregnancy.>

People with only some of the cells affected can live normal lifespans, as long

as other complications from the disorder don’t develop.

Those with T8mS are more likely to develop Wilms’ tumors, a cancer of the

kidneys of children. Additionally, there is increased potential to develop

myelodysplasias, which are bone marrow conditions, and myeloid leukemia,

a form of cancer that affects myeloid tissue.

Possible symptoms include: longer than average head wide, deep eyes thick lips large forehead narrow shoulders long torso narrow pelvis deep creases on the hands and feet palate (mouth) problems joint problems and stiffness spinal issues, such as scoliosis kidney problems heart issues bone and structure abnormalities underdeveloped genitals lack of intellectual development (in some but not all cases)