Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study.
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.
Reid
E
E
Duncan Guthrie Institute of Medical Genetics, Yorkhill NHS Trust, Glasgow, UK.
Morrison
N
N
Barron
L
L
Boyd
E
E
Cooke
A
A
Fielding
D
D
Tolmie
J L
JL
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
D005819:Genetic Markers