title: Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study.
abstract: We present three cousins who have normal karyotypes, despite having clinical features of Wolf-Hirschhorn syndrome. Fluorescence in situ hybridisation techniques confirmed that all three relatives were monosomic for the distal short arm of chromosome 4 and that a cryptic translocation involving chromosomes 4 and 11 was segregating within the family. Segregation analysis indicated that the risk of an affected child being born to a parent carrying the translocation was 15%. Molecular analysis showed that loci D4S111 and D4S115 were not deleted in the proband, thus excluding these loci from the "Wolf-Hirschhorn critical region". Surprisingly, DNA studies also suggested that the translocation breakpoint on chromosome 4 was within the region of a preexisting paracentric inversion.
authors.affiliation: Duncan Guthrie Institute of Medical Genetics, Yorkhill NHS Trust, Glasgow, UK.
authors.forename: E
authors.initials: E
authors.lastname: Reid
authors.forename: N
authors.initials: N
authors.lastname: Morrison
authors.forename: L
authors.initials: L
authors.lastname: Barron
authors.forename: E
authors.initials: E
authors.lastname: Boyd
authors.forename: A
authors.initials: A
authors.lastname: Cooke
authors.forename: D
authors.initials: D
authors.lastname: Fielding
authors.forename: J L
authors.initials: JL
authors.lastname: Tolmie
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D002894:Chromosomes, Human, Pair 4; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017403:In Situ Hybridization; D007223:Infant; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D018570:Risk Assessment; D013577:Syndrome; D014178:Translocation, Genetic
chemical_list: D005819:Genetic Markers