Warkany syndrome 1

Not 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 the OMIM number (308400) assigned to it () 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]

References

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


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