title: Neurological expression of an inherited translocation of chromosomal 1 and 7.
abstract: An unbalanced translocation of chromosome 1 and 7 (t[1;7]) associated with neurological phenotype and brain malformation has rarely been reported. This clinical report describes 3 siblings with brain malformations and a 13.5 Mb duplication of 1q42.3q44, and a 7.6 Mb duplication of 7q36.1q36.3 detected by array comparative genomic hybridization. This unbalanced t(1;7) was found to be inherited from a balanced translocation from the mother. All the patients presented with hypotonia, microcephaly, developmental delay, seizures, abnormal corpus callosum and abnormal cerebellum.
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.
authors.forename: Nabil A
authors.initials: NA
authors.lastname: AlMajhad
authors.forename: Amal M
authors.initials: AM
authors.lastname: AlHashem
authors.forename: Inesse A
authors.initials: IA
authors.lastname: Bouhjar
authors.forename: Brahim M
authors.initials: BM
authors.lastname: Tabarki
mesh_terms: D001921:Brain / Q000002:abnormalities*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic