The mission of AXYS is Services Available to the to help individuals with X and Y Variations Community one or more extra X or Y chromosomes and their families to live fuller and • Toll-free helpline 888–999–9428 more productive lives. • Online library of publications • Educational webinars • Support groups AXYS serves individuals and families • The AXYS Clinic and Research affected by Sex Chromosome Consortium, a national network of Aneuploidy including: specialized clinics • Professional directory • 47,XXY (Klinefelter syndrome) • Research recruitment • 47,XYY • Biennial family conference and • 47,XXX (Trisomy X) adult retreat • 48,XXYY and 48,XXXY • 49,XXXXY • 48,XXXX and 49,XXXXX Visit AXYS at www.genetic.org
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AXYS is a 501c3 organization. It relies on donations to fund our important support, advocacy and education 47,XYY work. Please consider making a tax deductible, online donation to AXYS at P. O . Box 861, Mendenhall, PA 19357 (Jacobs Syndrome) Helpline: 1-888-999-9428 www.genetic.org/donate/ [email protected] © 2018 AXYS Diagnosing X and Y About 47,XYY Chromosome Variations 47,XYY syndrome, sometimes called Jacobs syndrome, is the presence of an extra Y chromosome in males. It is characterized by wide variation in symptoms and severity among individuals. One male in X and Y chromosome variations affect 1 in 1000 is affected by 47,XYY. An individual with 47,XYY, usually has some, but not all, of the symptoms 500 persons. Because children and characteristic of the condition. In many, no symptoms are apparent; others are more significantly affected. adults with X/Y variations do not look “different”, and symptoms For more information, visit https://genetic.org/variations/about-xyy/ vary so much from one person to another, doctors frequently In infants and children: In teens and adults: neglect to test for this • Speech delay • Tall stature and long limbs genetic variation. • Hypotonia (low muscle tone) • Learning and social difficulties • Motor skill development delay • Anxiety, mood disorder, or other psychiatric Children can be identified • Learning disabilities difficulties prenatally through non- • Delayed social development; immaturity • Executive functioning challenges; impulsivity invasive prenatal screening • Mild autism spectrum disorder • Delay in vocational success of a blood sample, also • Attention deficit hyperactivity disorder (ADHD) • Dental problems known as cell-free DNA. • Subtle physical signs such as clinodactyly • Very occasionally, hypogonadism or This is only a screening (curved little finger) testicular failure test that may show a high Effective Treatment and risk for sex chromosome Men with 47,XYY, are Interventions variation. Diagnosis • Speech, occupational and physical prenatally can take place typically capable of therapy; very young children benefit through amniocentesis or fathering children and from early intervention services chorionic villus do not have lowered • Educational accommodations and sampling (CVS). fertility. The chances of special education services • Family and individual therapy; Children and adults passing on the extra Y behavioral consultation can be diagnosed with chromosome are very • Social skills training specialized blood tests • Vocational counseling; workplace including karyotyping, small, but couples may accommodations microarray, or FISH want to have genetic • Life skills training; financial literacy (fluorescence in situ programs hybridization). Testing counseling before • Consultation with an endocrinologist if for sex chromosome attempting pregnancy. hypogonadism is suspected aneuploidy can be obtained through a health care provider or a genetic counselor.