title: De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation.
abstract: We report on a case of satellited 15q with subtelomeric deletion in a girl with delayed development and severe growth retardation. The patient also has a triangular face, downturned angles of the mouth, micrognathia, and minor limb malformations including mild talipes equinovarus, genu recurvatum, and increased dorsiflexion of both limbs. Cytogenetic analysis using standard GTG banding showed a female karyotype with a satellited-like structure at the distal long arm of one chromosome 15. Silver staining of the nucleolar organizing region (AgNOR) confirmed the presence of a satellite DNA translocation at the lesion. Analysis using fluorescent in situ hybridization (FISH) detected a subtelomeric deletion of the terminal 15q. Additional molecular analysis using microsatellite markers along the long arm of chromosome 15 defined a maximally deleted region at approximately 4.7 Mb. Haploinsufficiency of the IGF1R gene expression is thought to be the cause of growth delay in all 15q terminal deletion including our patient.
authors.affiliation: Department of Pathology, Prince of Songkla University, Songkhla, Thailand. rsinitdh@medicine.psu.ac.th
authors.forename: Sinitdhorn
authors.initials: S
authors.lastname: Rujirabanjerd
authors.forename: Warapong
authors.initials: W
authors.lastname: Suwannarat
authors.forename: Thanya
authors.initials: T
authors.lastname: Sripo
authors.forename: Pathikan
authors.initials: P
authors.lastname: Dissaneevate
authors.forename: Wutichai
authors.initials: W
authors.lastname: Permsirivanich
authors.forename: Pornprot
authors.initials: P
authors.lastname: Limprasert
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D004276:DNA, Satellite; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D016615:Telomere; D014178:Translocation, Genetic
chemical_list: D004276:DNA, Satellite