Wisconsin syndrome in a patient with interstitial deletion of the long arm of chromosome 3: Further delineation of the phenotype

• Published in: American journal of medical genetics. Part A Vol. 120A; no. 3; pp. 413 - 417
• Main Authors: Ko, Wai‐tai, Lam, Wai‐fan, Lo, Fai‐man, Chan, Wing‐kwong, Lam, Tak‐sum
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 30.07.2003
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - physiopathology; Adolescent; Child; Child, Preschool; Chromosome Deletion; Chromosome Disorders - genetics; Chromosome Disorders - physiopathology; Chromosomes, Human, Pair 3; Craniofacial Abnormalities - genetics; Craniofacial Abnormalities - physiopathology; del[q23‐q25]; Developmental Disabilities - genetics; Developmental Disabilities - physiopathology; Female; Humans; hypogonadism; In Situ Hybridization, Fluorescence; Infant
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.20149

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. © 2003 Wiley‐Liss, Inc.