title: A novel microdeletion involving the 13q31.3-q32.1 region in a patient with normal intelligence.
abstract: Microdeletions of the long arm of chromosome 13 lead to a characteristic facial appearance with systemic affection; 13q deletion shows a wide phenotypic spectrum that varies with respect to the location and size of the deletion region. The main clinical features are mental retardation, growth retardation, craniofacial dysmorphy and various congenital defects. In the present study we describe the case of an adult female of Mexican origin with microcephaly, facial dysmorphism, short stature, hand anomalies and normal intelligence associated with a de novo 13q31.3-q32.1 microdeletion that involved several genes including the MIR17HG and the GPC5 genes.
authors: Servicio de Genética, Hospital General de México, Dr. Balmis 148 Col Doctores, México D.F., Mexico.
authors: Juan Manuel
authors: JM
authors: Valdes-Miranda
authors: Servicio de Genética, Hospital General de México, Dr. Balmis 148 Col Doctores, México D.F., Mexico.
authors: Jose Ramon
authors: JR
authors: Soto-Alvarez
authors: Centro Médico ISSEMYM, Ecatepec, EdoMex, Universidad Nacional Autónoma de México, México D.F., Mexico.
authors: Jaime
authors: J
authors: Toral-Lopez
authors: Servicio de Genética, Hospital General de México, Dr. Balmis 148 Col Doctores, México D.F., Mexico.
authors: Luz
authors: L
authors: González-Huerta
authors: Servicio de Genética, Hospital General de México, Dr. Balmis 148 Col Doctores, México D.F., Mexico.
authors: Adrian
authors: A
authors: Perez-Cabrera
authors: Servicio de Genética, Hospital General de México, Dr. Balmis 148 Col Doctores, México D.F., Mexico.
authors: Georgina
authors: G
authors: Gonzalez-Monfil
authors: Servicio de Oftalmología, Hospital General de México, México D.F., Mexico.
authors: Olga
authors: O
authors: Messina-Bass
authors: Servicio de Genética, Hospital General de México, Dr. Balmis 148 Col Doctores, México D.F., Mexico; Facultad de Medicina, Universidad Nacional Autónoma de México, México D.F., Mexico. Electronic address: sergiocuevasunam@gmail.com.
authors: Sergio
authors: S
authors: Cuevas-Covarrubias
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
keywords: 13q deletion; Genomic imbalances; aCGH