FISH detection of Wolf‐Hirschhorn syndorem: Exclusion of D4F26 as critical site
- 1 August 1994
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 52 (1) , 70-74
- https://doi.org/10.1002/ajmg.1320520114
Abstract
Wolf‐Hirschhorn syndrome (WHS) is due to a deletion in the terminal band of 4p 16.3. Among loci that have been involved in deletions are D4S98, D4S95, D4S125, D4F26, as shown by PCR typing, Southern blot hybridization, and/or fluorescent, in situ hybridization (FISH).Currently, FISH detection of WHS is predicated upon the deletion of the D4F26 locus with failure to hybridize to pC847.351, a commercially available cosmid probe. A WHS patient is shown to have an interstitial deletion, by hemizygosity at D4S98 and D4S95 but not at D4F26. This suggests that the tip of 4p, specifically D4F26, is not a critical deletion site for WHS.Keywords
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