Identification of isochromosome 17 in a girl with mental retardation and congenital malformations.
An isochromosome 17 was found in all analyzed cells of a mentally retarded and malformed girl. As the abnormal chromosome displayed a polymorphic distal band also observed in chromosome 17 of the father, it is suggested that the abnormal chromosome is the result of a non sister chromatid interchange at the level of the centromeric region of chromosomes 17 in paternal meiosis.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002902:Chromosomes, Human, 16-18; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping