FISH-analysis using a set of probes homologous to specific sequences in the subtelomeric regions of all chromosomes.
Wolf-Hirschhorn Syndrome, Microdeletion 4p16.3
WHS
Clinical Features
Wolf-Hirschhorn syndrome (WHS) is a chromosome deletion syndrome with microcephaly, facial dysmorphisms (high forehead, hypertelorism, broad hooked nose, ptosis, dysplasies of the helix, microgeny and psychomotor retardation. Further features include hypospadia, cryptorchism, heart defects, hypoplasy of the cerebellum and multicystic renal degeneration.
Genetic Information
WHS is cytogenetically characterised by the loss of a part of the short arm of chromosome 4 (4p16.3). The severeness of the syndrome is dependent on the size of the deleted region. Very small deletions are only visible using molecularcytogenetic methods whilst larger losses are detectable in standard chromosome analysis. The loss of an app. 165 Kb region (WHSCR-1) is accountable for the pathology of WHS. A second critical region (WHSCR-2) is located distal to WHSCR-1, both in 4p16.3. The affected genes are most probably transcriptional regulators further a gene acting in regulation of calcium transport.
Prevalence
1 : 50 000
Diagnostic
Indication
Method
Karyotyping and FISH analysis with probes specific for chromosome region 4p16.3.
Sample Requirement
2 - 5 ml of heparinised blood
Duration
1 - 2 weeks
OMIM