An extra small metacentric chromosome identified as a deleted chromosome no. 17.
In an 11-year-old girl with multiple congenital abnormalities and mental retardation, an extra, small, metacentric chromosome was identified by banding methods as a deleted chromosome No. 17. This represents the first reported case of partial trisomy 17.
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002902:Chromosomes, Human, 16-18; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D014314:Trisomy