D a l J Journal of Pigmentary Disorders
Trisomy 8 mosaicism syndrome, also known as Warkany syndrome 2, is a rare genetic event with an estimated frequency of about 1:25000 to 1:50000 births Males are more frequently affected than females (M/ F=5/1) [1] Complete trisomy 8 is usually lethal, causing 0 70 of first-trimester abortions [2] However, mosaic trisomy 8 syndrome has
Trisomy 8 Mosaicism and Favorable Outcome The Author(s) 2010
omy 8 syndrome and infantile spasms, who became seizure free after treatment with adrencorticotropic hormone and clonazepam Keywords infantile spasms, trisomy 8 mosaicism, Warkany syndrome Received July 23, 2009 Accepted for publication November 17, 2009 Constitutional mosaic trisomy 8 syndrome, also known as War-
Trisomía 8 en mosaico
por la presencia de un cromosoma 8 completo de mas en algunas células del cuerpo Las células restantes tienen el número normal de 46 cromosomas, con dos copias del cromosoma 8 en cada célula A veces, T8M se llama síndrome Warkany después del Dr Josef Warkany, el pediatra estadounidense que identificó por primera vez
Chromosome Abnormalities Reference: http://wwwncbinlmnih
This syndrome is an example of tissue limited mosaicism The isochromosome 12p is typically found in fibroblasts, but not in the lymphocytes (See Molecular Cytogenetics update) Phenotype includes profound MR, seizures, streaky pigmentation, sparse hair (especially in temporal areas), coarse facial features in older patients Warkany syndrome 2 8
Syndrome designations
Furthermore, to paraphrase Warkany(1971), Apert neither hadnorownedthe syndromehe described Thus, the term Apert syndrome or the Apert syndrome seems preferable Twoor morenamesare foundin someeponyms and may indicate various things The Smith-Lemli-Opitz syndrome indicates collaboration The Morquio-Brailsford syndrome indicates inde-pendent
Trisomy-8-Positive Hematologic Malignancies Associated with
There is an established report de- (CT8M), also known as Warkany syndrome, is reported in 1/25 000 to 1/50 000 live births and has physical stigmata, including abnormal pigmentation
Natural history of trisomy 18 and trisomy 13: I Growth
Taylor, 1967, 1968; Warkany et al , 1966; Zellweger et al , 19641 In spite of the hundreds of medical articles describing trisomy 18 and trisomy 13, there is still a lack of precise data about their natural history There also tends to be a skewing of information toward the extreme negative, with families often being told that
Congenital renal abnormalities in the Laurence-Moon-Biedl
syndrome The Laurence-Moon-Biedl syndrome (LMBS) has 5 classical signs, pigmentary retinopathy, poly-dactyly, hypogenitalism, obesity, and mental re-tardation(Warkanyetal , 1937), butawiderangeof additional signs occur (Bell, 1958) and renal ab-normalities havebeenencounteredfrequently at the infrequent necropsy (McLoughlin and Shanklin, 1967)
The Society of Thoracic Surgeons Congenital Heart Surgery
Heterotaxy syndrome, Asplenia syndrome von Willebrand disease (vWD) Heterotaxy syndrome, Polysplenia syndrome Warkany syndrome (Trisomy 8) Holt-Oram syndrome Williams syndrome (Williams-Beuren syndrome) Jacobsen syndrome Wolff-Parkinson-White syndrome (WPW syndrome) Kabuki syndrome Wolf-Hirschhorn syndrome
Case Trisomy 8 syndrome
Trisomy 18 (Edwards' syndrome) is a clinically recognisable syndrome with an incidence in new-bornsof0-01 (Jacobset al , 1974) Inmostinstan-ces, it results fromnondisjunction in amaternal or paternal gamete producing three normal No 18 chromosomes in the zygote Muller et al (1972) described a case with the phenotype oftrisomy 18 which had
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[PDF] définition chromatine
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