Warkany syndrome
Encyclopedia
Two distinct congenital syndrome
s were named after Joseph Warkany
, an Austrian-American geneticist
and pediatrician, 1902-1992.
),. Complete trisomy 8 causes severe effects on the developing fetus and is almost always perinatal lethal. Trisomy 8 mosaicism
is less severe and individuals with this condition are more likely to survive. Trisomy 8 is associated with a characteristic and recognizable pattern of developmental abnormalities. The type and severity of symptoms are dependent upon the location and proportion of trisomy 8 cells compared to normal cells.
Syndrome
In medicine and psychology, a syndrome is the association of several clinically recognizable features, signs , symptoms , phenomena or characteristics that often occur together, so that the presence of one or more features alerts the physician to the possible presence of the others...
s were named after Joseph Warkany
Joseph Warkany
Joseph Warkany was an Austrian American pediatrician known as the "father of teratology".-Early life:Warkany was born in Vienna and this is where he completed his medical studies...
, an Austrian-American geneticist
Geneticist
A geneticist is a biologist who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a researcher or lecturer. Some geneticists perform experiments and analyze data to interpret the inheritance of skills. A geneticist is also a Consultant or...
and pediatrician, 1902-1992.
Warkany syndrome 1
Warkany syndrome 1 is an X-chromosome linked recessive genetic condition originally described by Warkany in 1961 as part of an article on intrauterine growth retardation. 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 the OMIM number (308400) assigned to it (http://www.nlm.nih.gov/archive/20061212/mesh/jablonski/cgi/jablonski/syndrome_cgi96c9.html?term=Warkany+syndrome+1&field=name) and listed in a review article on X-linked mental retardation has been removed from the OMIM database. Furthermore, this condition is no longer mentioned in a more recent review of X-linked mental retardation.Warkany syndrome 2 (trisomy 8)
Warkany syndrome 2, or simply "Warkany syndrome", is used by some authors when referring to chromosome 8 trisomy syndrome (Trisomy 8Trisomy 8
Trisomy 8 is a human chromosomal disorder caused by having three copies of chromosome 8. It can appear with or without mosaicism.-Characteristics:...
),. Complete trisomy 8 causes severe effects on the developing fetus and is almost always perinatal lethal. Trisomy 8 mosaicism
Mosaic (genetics)
In genetic medicine, a mosaic or mosaicism denotes the presence of two populations of cells with different genotypes in one individual who has developed from a single fertilized egg...
is less severe and individuals with this condition are more likely to survive. Trisomy 8 is associated with a characteristic and recognizable pattern of developmental abnormalities. The type and severity of symptoms are dependent upon the location and proportion of trisomy 8 cells compared to normal cells.