1.
Am J Med Genet A
; 158A(4): 877-81, 2012 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22407779
RESUMO
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.