title: Partial trisomy of 11q23.3-q25 inherited from a maternal low-level mosaic unbalanced translocation.
abstract: Partial trisomy of 11q is characterized by pre/postnatal growth retardation, microcephaly, dysmorphic craniofacial features, cognitive disability, abnormal muscle tone, inguinal hernia, and possible congenital heart defects. Here, we describe a 17-year-old male with a 17.77 Mb-sized [arr 11q23.3-q25 (116,667,559 -134,434,130) ×3] partial trisomy resulting from the unbalanced translocation between chromosomes 11 and 22. The terminal translocation was detected using oligonucleotide array comparative genomic hybridization (CGH) with fluorescence in situ hybridization (FISH) confirmation. The partial trisomy was inherited from his mother who had the low-level (22.7%) mosaic unbalanced translocation and a normal phenotype. The patient showed most of the common features of partial trisomy 11q syndrome, with additional findings, including mesenteric fibromatosis.
authors.affiliation: Department of Pediatrics, Eulji General Hospital, College of Medicine, Eulji University, Seoul, Korea.
authors.forename: Jungyoon
authors.initials: J
authors.lastname: Choi
authors.affiliation: Department of Pathology, Eulji General Hospital, College of Medicine, Eulji University, Seoul, Korea.
authors.forename: Hojung
authors.initials: H
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Eulji General Hospital, College of Medicine, Eulji University, Seoul, Korea.
authors.forename: Cha Gon
authors.initials: CG
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D002880:Chromosomes, Human, Pair 11; D055028:Comparative Genomic Hybridization; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009030:Mosaicism; D014178:Translocation, Genetic; D014314:Trisomy
keywords: chromosome 11 partial trisomy 11q; chromosomes human pair 11; mesenteric fibromatosis; partial trisomy; translocation