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]
YouTube Encyclopedic
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RARE CHROMOSOME DISORDER ~ Dowie living with T8M (Trisomy 8 Mosaic syndrome)
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Rare Chromosome Disorder (T8M) Trisomy 8 Mosaic Syndrome
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1980 Interview of Dr. J. Warkany Part 4
Transcription
See also
- Trisomy 8, which causes Warkany syndrome 2
References
- ^ Warkany J (1961). "Intrauterine growth retardation". Am. J. Dis. Child. 102 (2): 249–79. doi:10.1001/archpedi.1961.02080010251018. PMID 13783175.
- ^ 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.
- ^ Chiurazzi P (2008). "XLMR genes: update 2007". Eur. J. Hum. Genet. 16 (4): 422–34. doi:10.1038/sj.ejhg.5201994. PMID 18197188.
External links
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This page was last edited on 28 October 2023, at 02:47