title: Wisconsin syndrome in a patient with interstitial deletion of the long arm of chromosome 3: further delineation of the phenotype.
abstract: Interstitial deletions of the long arm of chromosome 3 are uncommon. Most cases are related to the blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), which is mapped to 3q23. We report on a case with a de novo chromosomal deletion of 3q23 and 3q25. We review the literature on the reported cases of 3q deletion and find that the condition of our patient is not typical of the BPES. Rather, she shares similarity to a patient with Wisconsin syndrome, first discovered in 1976.
authors.affiliation: Department of Paediatrics, Queen Elizabeth Hospital, Hong Kong Special Administrative Region, China. danial@netvigator.com
authors.forename: Wai-tai
authors.initials: WT
authors.lastname: Ko
authors.forename: Wai-fan
authors.initials: WF
authors.lastname: Lam
authors.forename: Fai-man
authors.initials: FM
authors.lastname: Lo
authors.forename: Wing-kwong
authors.initials: WK
authors.lastname: Chan
authors.forename: Tak-sum
authors.initials: TS
authors.lastname: Lam
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics / Q000503:physiopathology*; D002893:Chromosomes, Human, Pair 3; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000503:physiopathology; D002658:Developmental Disabilities / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant