Tandem duplication (1) (q11----q22) in a male infant with multiple congenital malformations.
An inverted tandem duplication of 1q11-q22 was found in a male infant with severely retarded psychomotor development, growth retardation, and multiple congenital malformations. Trisomy for this segment of chromosome 1 has not been previously reported.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002878:Chromosomes, Human, Pair 1 / Q000648:ultrastructure*; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D014314:Trisomy