Presumptive long arm deletion of chromosome 8: a new syndrome?
This communication describes an infant with growth and psychomotor retardation and severe congenital malformations, who was found to have an interstitial deletion of the long arm of chromosome 8: 46,XY,del(8) (q13q22). Comparison with the only other previously reported patient with a deletion of a similar chromosomal segment suggested that deletion of the long arm of chromosome 8 may constitute a clinically recognizable syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics*; D013577:Syndrome