PT - JOURNAL ARTICLE AU - N M C Maas AU - G Van Buggenhout AU - F Hannes AU - B Thienpont AU - D Sanlaville AU - K Kok AU - A Midro AU - J Andrieux AU - B-M Anderlid AU - J Schoumans AU - R Hordijk AU - K Devriendt AU - J-P Fryns AU - J R Vermeesch TI - Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH) AID - 10.1136/jmg.2007.052910 DP - 2008 Feb 01 TA - Journal of Medical Genetics PG - 71--80 VI - 45 IP - 2 4099 - http://jmg.bmj.com/content/45/2/71.short 4100 - http://jmg.bmj.com/content/45/2/71.full SO - J Med Genet2008 Feb 01; 45 AB - Background: The Wolf-Hirschhorn syndrome (WHS) is usually caused by terminal deletions of the short arm of chromosome 4 and is phenotypically defined by growth and mental retardation, seizures, and specific craniofacial manifestations. Large variation is observed in phenotypic expression of these features. In order to compare the phenotype with the genotype, we localised the breakpoints of the 4pter aberrations using a chromosome 4 specific tiling BAC/PAC array.Methods: In total, DNA from 21 patients was analysed, of which 8 had a cytogenetic visible and 13 a submicroscopic deletion.Results and conclusion: In addition to classical terminal deletions sized between 1.9 and 30 Mb, we observed the smallest terminal deletion (1.4 Mb) ever reported in a patient with mild WHS stigmata. In addition, we identified and mapped interstitial deletions in four patients. This study positions the genes causing microcephaly, intrauterine and postnatal growth retardation between 0.3 and 1.4 Mb and further refines the regions causing congenital heart disease, cleft lip and/or palate, oligodontia, and hypospadias.