title: Neonatal detection of 5p13.2 duplication and delineation of the phenotype.
abstract: A newborn boy with broad forehead, mild microretrognathia, large hands and feet, arachnodactyly and a cortical thumb also had left renal agenesis, dysgenesis of corpus callosum with psychomotor delay. After olignucleotide array comparative genomic hybridization (array-CGH) analysis, we detected a 900 kb duplication in cytoband 5p13.2, apperently a first clinical description.
authors.affiliation: Pediatric Service, University Hospital Complex of Albacete, Albacete, Spain. mccarrascosa@sescam.jccm.es
authors.forename: M Carmen
authors.initials: MC
authors.lastname: Carrascosa Romero
authors.forename: Rosa
authors.initials: R
authors.lastname: García Hoyo
authors.forename: María
authors.initials: M
authors.lastname: Calvente
authors.forename: María
authors.initials: M
authors.lastname: Baquero Cano
authors.forename: Llanos
authors.initials: L
authors.lastname: González Castillo
authors.forename: Javier
authors.initials: J
authors.lastname: Suela
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum / Q000235:genetics; D054119:Arachnodactyly / Q000235:genetics; D058674:Chromosome Duplication / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D000013:Congenital Abnormalities / Q000235:genetics; D056915:DNA Copy Number Variations; D027341:Excitatory Amino Acid Transporter 1 / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007231:Infant, Newborn; D059785:Karyotype; D007668:Kidney / Q000002:abnormalities; D007674:Kidney Diseases / Q000151:congenital / Q000235:genetics; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D010641:Phenotype; D011597:Psychomotor Performance; D063173:Retrognathia / Q000235:genetics
chemical_list: D027341:Excitatory Amino Acid Transporter 1; C493394:SLC1A3 protein, human