FISH detection of Wolf-Hirschhorn syndrome: exclusion of D4F26 as critical site.
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 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 predicted 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.
Department of OB/GYN, University of South Dakota School of Medicine, Sioux Falls.
V P
VP
Johnson
M R
MR
Altherr
J M
JM
Blake
L D
LD
Keppen
D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D013577:Syndrome