title: A Novel 23.1 Mb Interstitial Deletion Involving 7q22.3q32.1 in a Girl with Short Stature, Motor Delay, and Craniofacial Dysmorphism.
abstract: Interstitial deletions of 7q show a wide phenotypic spectrum that varies with respect to the location and size of the deleted region. They lead to craniofacial dysmorphism with intellectual disability, growth retardation, and various congenital defects. Here, a Mexican girl with microcephaly, facial dysmorphism, short stature, hand anomalies, and intellectual disability was analyzed by CytoScan HD array. Her phenotype was associated with a de novo 7q22.3q32.1 deletion involving 109 loci, 57 of them listed in the OMIM database. This novel deletion increases the knowledge of the variability in the rupture sites of the region and expands the spectrum of molecular and clinical defects of the 7q deletion syndrome.
authors: Departamento de Genética Médica, Hospital General de México/Facultad de Medicina, Universidad Nacional Autónoma de México (UNAM), México, DF, México.
authors: Maria
authors: M
authors: Del Refugio Rivera-Vega
authors: Luis A
authors: LA
authors: Gómez-Del Angel
authors: Juan M
authors: JM
authors: Valdes-Miranda
authors: Adrián
authors: A
authors: Pérez-Cabrera
authors: Luz M
authors: LM
authors: Gonzalez-Huerta
authors: Jaime
authors: J
authors: Toral-López
authors: Sergio
authors: S
authors: Cuevas-Covarrubias
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008800:Mexico; D008831:Microcephaly / Q000235:genetics*