title: A girl with 15q overgrowth syndrome and dup(15)(q24q26.3) that included telomeric sequences.
abstract: Distal 15q trisomy or tetrasomy is associated with a characteristic phenotype that includes mild to moderate intellectual disability, abnormal behavior, speech impairment, overgrowth, hyperlaxity, long face, prominent nose, puffy cheeks, pointed chin, small ears, and hand anomalies (mainly arachno- and camptodactyly). We present the case of a 13-yr-old girl with the main clinical features of 15q overgrowth syndrome and a 46,XX,dup(15)(q24q26.3)[117]/46,XX[3].ish dup(15)(q24q26.3) (SNPRN+,PML+,subtel++,tel++) de novo karyotype. The findings in this case are consistent with those in the previous distal 15q trisomy cases that presented with overgrowth and mental retardation. Further, the rearranged chromosome had a double set of directly oriented telomeric and subtelomeric sequences.
authors.affiliation: Department of Genetics, Autonomous University of Guadalajara, Guadalajara, Mexico.
authors.forename: María de Los Angeles
authors.initials: Mde L
authors.lastname: Gutiérrez-Franco
authors.forename: María de la Luz
authors.initials: Mde L
authors.lastname: Madariaga-Campos
authors.forename: Ana I
authors.initials: AI
authors.lastname: Vásquez-Velásquez
authors.forename: Esmeralda
authors.initials: E
authors.lastname: Matute
authors.forename: Roberto
authors.initials: R
authors.lastname: Guevara-Yáñez
authors.forename: Horacio
authors.initials: H
authors.lastname: Rivera
mesh_terms: D000293:Adolescent; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D016615:Telomere / Q000737:chemistry*