title: Molecular analysis of 4p deletion associated with Wolf-Hirschhorn syndrome moving the "critical segment" towards the telomere.
abstract: We report molecular studies in 2 patients with Wolf-Hirschhorn syndrome, probing genomic DNA from the patients and their parents with markers that have been mapped to 4p16.3. One of the patients was heterozygous for alleles detected by probe F5.53, which maps to the centromeric end of the D4S10 locus, but hemizygous for loci located more distally. The region in common, which was deleted in both these patients, is within 4p16.3. This observation suggests that the gene(s) for Wolf syndrome may be contained within this region, and that the "critical segment" is located more distally than previous cytogenetic observations have suggested. Furthermore, we found that the deletion was of maternal origin in one patient, and of paternal origin in the other.
authors.affiliation: Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
authors.forename: M
authors.initials: M
authors.lastname: Anvret
authors.forename: M
authors.initials: M
authors.lastname: Nordenskjöld
authors.forename: L
authors.initials: L
authors.lastname: Stolpe
authors.forename: L
authors.initials: L
authors.lastname: Johansson
authors.forename: K
authors.initials: K
authors.lastname: Bröndum-Nielsen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D015139:Blotting, Southern; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D013577:Syndrome