Interstitial deletion of the long arm of chromosome 8. Karyotype: 46,XY,del(8)(q21).
This report describes a polymalformed 18-month-old male with an interstitial deletion of the long arm of chromosome 8. His karyotype is: 46,XY,del(8)(q21).
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D011596:Psychomotor Disorders / Q000235:genetics