Partial trisomy 2q.
An infant with unusual facies and anomalies of brain, heart, and kidney was found to have a simple duplication of the distal long arm of chromosome 2. The clinical features of this case refine the phenotypic spectrum of partial trisomy 2q; prior cases had more complicated chromosomal rearrangements.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D014314:Trisomy