47,XYY syndrome

47,XYY syndrome

Definition

47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.

Also known as 47,XYY, 47,XYY syndrome, disomy Y, Double Y, Double Y syndrome, XYY karyotype, XYY Syndrome, Y disomy — per MONDO

Also identified as