FISH detection of Wolf-Hirschhorn syndrome: Exclusion of D4F26 as critical site
Journal Article
·
· American Journal of Medical Genetics
Wolf-Hirschhorn syndrome (WHS) is due to a deletion in the terminal band of 4p16.3. Among loci that have been involved in deletions are 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 D4F26. This suggests that the tip of 4p, specifically D4F26, is not a critical deletion site for WHS. 19 refs., 4 figs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 62020
- Journal Information:
- American Journal of Medical Genetics, Vol. 52, Issue 1; Other Information: PBD: 1 Aug 1994
- Country of Publication:
- United States
- Language:
- English
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