Trisomy X) • AXYS Family Conference • 48,XXYY and 48,XXXY

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Trisomy X) • AXYS Family Conference • 48,XXYY and 48,XXXY

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 • Helpline [email protected] more productive lives. or 888–999–9428 • Online library of publications • Educational webinars AXYS serves individuals and families • Support groups affected by Sex Chromosome • The AXYS Clinic and Research Aneuploidy including: Consortium, a network of specialized clinics in the US • 47,XXY (Klinefelter syndrome) • Professional directory • 47,XYY (Jacobs syndrome) • Research recruitment • 47,XXX (Trisomy X) • AXYS Family Conference • 48,XXYY and 48,XXXY Visit AXYS at www.genetic.org Donate to AXYS AXYS is a 501c3 organization. It relies on donations to fund our important support, advocacy and education 47,XXX work. Please consider making a tax deductible, online donation to AXYS at P. O . Box 659, Paoli, PA 19301 (Trisomy X) www.genetic.org/donate/ [email protected] © 2019 AXYS Diagnosing X and Y About 47,XXX (Trisomy X) Chromosome Variations 47,XXX, is the presence of an extra X chromosome in a female. It is characterized by wide variation in symptoms and severity among individual girls and women. One female in 1000 is affected by X and Y chromosome variations affect 1 in 500 47,XXX. An individual with Trisomy X often has some, but not all, of the symptoms that characterize persons. Because children and adults with X/Y the phenotype. Women with 47,XXX, are typically capable of becoming pregnant although some have variations do not look “different”, and lowered fertility. The chances of passing on the extra X chromosome are very small, but couples may symptoms vary so much want to have genetic counseling before attempting pregnancy. from one person to For more information, visit https://genetic.org/variations/about-trisomy-x/ another, doctors frequently neglect to test In infants and children: In teens and adults: for this genetic variation. • Speech delay • Tall stature and long limbs Less than 30 percent • Hypotonia (low muscle tone) • Ongoing learning and/or social difficulties of individuals are • Motor skill development delay • Anxiety, mood disorder, other psychiatric properly diagnosed • Learning disabilities difficulties in their lifetimes. • Delayed social development; anxiety • Executive functioning challenges; impulsivity • Attention deficit hyperactivity disorder (ADHD) • Delay in vocational success Children can be identified • Subtle physical signs such as epicanthic eyelid • Occasionally, delayed puberty, lowered prenatally through skin folds fertility or premature ovarian failure non-invasive prenatal screening of a blood sample, also known as cell-free DNA. This is Effective Treatment and Interventions only a screening test that • Speech, occupational and physical therapy. may show a high risk for Very young children benefit from early intervention sex chromosome variation. services Diagnosis prenatally can take • Educational accommodations and special place through amniocentesis education services or chorionic villus • Family and individual therapy; behavioral sampling (CVS). consultation • Social skills training programs Children and adults can be • Vocational counseling; workplace diagnosed with specialized accommodations blood tests including karyotyping, microarray, • Life skills training; financial literacy programs or FISH (fluorescence in situ hybridization). • Consultation with gynecologist if there are Testing for sex chromosome aneuploidy can concerns regarding delayed puberty, infertility, or be obtained through a health care provider or a premature ovarian failure genetic counselor..

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Sema4 Noninvasive Prenatal Select
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Original Article
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