Isochromosome-formation in chromosome 9.
A new case of de novo isochromosome-formation in chromosome 9 associated with the translocation of long arm material of chromosome 9 onto chromosome 1 is described. The female patient is mentally retarded and shows only minor dysmorphisms. The cytogenetic investigation revealed a two-cell-line mosaicism with different isochromosomes of chromosome 9. In both cell lines, a translocation of 9qter-9q13 onto the short arm of chromosome 1 is observed.
Miller
K
K
Department of Human Genetics, Medizinische Hochschule Hannover, Germany.
Arslan-Kirchner
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1 / Q000648:ultrastructure*; D002899:Chromosomes, Human, Pair 9 / Q000648:ultrastructure*; D004392:Dwarfism / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics; D009030:Mosaicism; D005810:Multigene Family; D013285:Strabismus / Q000235:genetics; D014178:Translocation, Genetic