The association of chromosome 3 duplication and the Cornelia de Lange syndrome.
Two unrelated children with features of the Cornelia de Lange syndrome, including mental retardation, growth retardation, glaucoma, and a similar facies, had duplications corresponding to bands q25 leads to q29 of chromosome 3. These patients were compared to others with duplications of chromosome 3 and to a large series of patients with Cornelia de Lange syndrome. Diseases that sometimes involve characteristic chromosomal changes but have normal chromosomes in other instances are discussed.
D001399:Azure Stains; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002900:Chromosomes, Human, 1-3; D003635:De Lange Syndrome / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male
D001399:Azure Stains