A girl with 15q overgrowth syndrome and dup(15)(q24q26.3) that included telomeric sequences.
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.
Gutiérrez-Franco
María de Los Angeles
Mde L
Department of Genetics, Autonomous University of Guadalajara, Guadalajara, Mexico.
Madariaga-Campos
María de la Luz
Mde L
Vásquez-Velásquez
Ana I
AI
Matute
Esmeralda
E
Guevara-Yáñez
Roberto
R
Rivera
Horacio
H
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*