Pure trisomy 17p in 60% cells.
A patient with pure trisomy of the short arm of chromosome 17 in 60% of the examined cells is reported. She presented a variant chromosome 1 with partial pericentric inversion and increased centromeric heterochromatin in one chromosome 17. The cytogenetic findings are discussed. The clinical findings are compared to those found in other reported cases of partial trisomy 17 and a delineation of a pure trisomy 17p attempted.
D000015:Abnormalities, Multiple / Q000235:genetics; D002902:Chromosomes, Human, 16-18; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D009030:Mosaicism; D011596:Psychomotor Disorders / Q000235:genetics; D013577:Syndrome; D014314:Trisomy