Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.

[wolf-hirschhorn syndrome]

Wolf-Hirschhorn syndrome (WHS ) is a contiguous gene deletion syndrome of the distal 4 p chromosome , characterized by craniofacial features , growth impairment , intellectual disability , and seizures . Although genotype-phenotype correlation studies have previously been published , several important issues remain to be elucidated including seizure severity . We present detailed clinical and molecular-cytogenetic findings from a microarray and fluorescence in situ hybridization (FISH )-based genotype-phenotype analysis of 22 Japanese WHS patients , the first large non-Western series . 4 p deletions were terminal in 20 patients and interstitial in two , with deletion sizes ranging from 2 .06 to 29 .42 Mb . The new Wolf-Hirschhorn syndrome critical region (WHSCR 2 ) was deleted in all cases , and duplication of other chromosomal regions occurred in four . Complex mosaicism was identified in two cases : two different 4 p terminal deletions ; a simple 4 p terminal deletion and an unbalanced translocation with the same 4 p breakpoint . Seizures began in infancy in 33 % (2 /6 ) of cases with small (<6 Mb ) deletions and in 86 % (12 /14 ) of cases with larger deletions (>6 Mb ). Status epilepticus occurred in 17 % (1 /6 ) with small deletions and in 87 % (13 /15 ) with larger deletions . Renal hypoplasia or dysplasia and structural ocular anomalies were more prevalent in those with larger deletions . A new susceptible region for seizure occurrence is suggested between 0 .76 and 1 .3 Mb from 4 pter , encompassing CTBP 1 and CPLX 1 , and distal to the previously-supposed candidate gene LETM 1 . The usefulness of bromide therapy for seizures and additional clinical features including hypercholesterolemia are also described .

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Diseases presenting "additional clinical features including hypercholesterolemia are also described" symptom

wolf-hirschhorn syndrome

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