Global Information Lookup Global Information

Warkany syndrome 1 information


Warkany syndrome

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 the OMIM 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]

  1. ^ Warkany J (1961). "Intrauterine growth retardation". Am. J. Dis. Child. 102 (2): 249–79. doi:10.1001/archpedi.1961.02080010251018. PMID 13783175.
  2. ^ Lubs H (1999). "XLMR genes: update 1998". Am. J. Med. Genet. 83 (4): 237–47. doi:10.1002/(SICI)1096-8628(19990402)83:4<237::AID-AJMG2>3.0.CO;2-8. PMID 10208155.
  3. ^ Chiurazzi P (2008). "XLMR genes: update 2007". Eur. J. Hum. Genet. 16 (4): 422–34. doi:10.1038/sj.ejhg.5201994. PMID 18197188.

and 10 Related for: Warkany syndrome 1 information

Request time (Page generated in 0.7724 seconds.)

Warkany syndrome 1

Last Update:

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...

Word Count : 222

Warkany syndrome

Last Update:

Warkany syndrome refers to one of two genetic disorders, both named for Austrian-American geneticist Joseph Warkany: Warkany syndrome 1, an X-linked syndrome...

Word Count : 88

Trisomy 8

Last Update:

Trisomy 8 causes Warkany syndrome 2, a human chromosomal disorder caused by having three copies (trisomy) of chromosome 8. It can appear with or without...

Word Count : 630

List of syndromes

Last Update:

Wallis–Zieff–Goldblatt syndrome Waltman Walter syndrome Warkany syndrome 1 Warmblood Fragile Foal Syndrome Wartenberg's Syndrome Waterhouse–Friderichsen syndrome Watson...

Word Count : 4052

Down syndrome

Last Update:

2012. Warkany J (1971). Congenital Malformations. Chicago: Year Book Medical Publishers, Inc. pp. 313–14. ISBN 978-0-8151-9098-1. "About Down Syndrome". National...

Word Count : 15021

List of eponymous diseases

Last Update:

Waldenstrom–Kjellberg syndrome – Jan G. Waldenström, S. R. Kjellberg Waldenstrom macroglobulinaemia – Jan G. Waldenström Warkany syndrome 1 – Joseph Warkany Warkany syndrome...

Word Count : 6417

Josef Warkany

Last Update:

of his life. Two genetic syndromes are named for him: Warkany syndrome 1 and Warkany syndrome 2 is named after him. Warkany received many awards in his...

Word Count : 169

Trisomy

Last Update:

are: Trisomy 21 (Down syndrome) Trisomy 18 (Edwards syndrome) Trisomy 13 (Patau syndrome) Trisomy 9 Trisomy 8 (Warkany syndrome 2) Of these, Trisomy 21...

Word Count : 575

List of genetic disorders

Last Update:

microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities". Molecular Cytogenetics. 12 (1): 19. doi:10.1186/s13039-019-0431-7...

Word Count : 969

Wladimir Wertelecki

Last Update:

also led Wertelecki toward another life-long association with Dr. Josef Warkany, considered the main pioneer and founder of the Teratology Society dedicated...

Word Count : 3592

PDF Search Engine © AllGlobal.net