Our mission is to help individuals with one or more Visit at AXYS extra X and/or Y www.genetic.org chromosomes and their to learn more about the organization’s programs. families lead fuller and more productive lives.
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AXYS serves individuals and families affected by X Regional and online support groups and Y chromosome aneuploidies including Trisomy Information about and opportunities to X, 47,XXY (Klinefelter syndrome), 47,XYY and participate in research and clinical studies associated conditions including 48,XXXY; 48,XXYY; 48,XXXX; 49,XXXXY; 49,XXXXX. Assistance finding services and clinicians
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About X and Y Chromosome Variations 47,XYY is a trisomy condition in which there is an extra Y chromosome. It affects 1 in 1,000 males. Many have no symptoms, but some are more significantly affected. X and Y chromosome variations affect 1 in 500 persons. Approximately 75% are never diagnosed. Diagnostic tools: Karyotype blood test; XCAT buccal swab test; FISH (fluorescence in situ hybridization); or microarray.
Typical human cells have 46 chromosomes: 22 Prenatal diagnostic tools: Amniocentesis; chorionic villus pairs of autosomes and 1 pair of sex chromo- sampling; or, NIPT (noninvasive prenatal test). somes. Females have two X chromosomes (46,XX). Males have one X and one Y (46,XY). Diagnostic testing is indicated when a child or an adult displays Variations are called sex chromosome aneuploidy some of the constellation of symptoms listed below. (SCA). These are the most common chromosomal aneuploid conditions that affect humans. Effective Therapies & Treatment for In children, 47,XYY may produce some of the 47,XYY Syndrome (if indicated) The most common SCA in females is 47,XXX following symptoms: (Trisomy X). The most common in males are Infants and very young children may be eligible for 47,XXY (Klinefelter syndrome) or 47,XYY. There are numerous other SCA conditions involving 48 and 49 chromosomes, as well as Turner syndrome (45,X). O
SCA is associated with symptoms that vary along a continuum from mild to severe. The associated symptoms may include physical, hormonal, neurocognitive, psychiatric and social issues In older teens and adults, 47,XYY that can present functional challenges in daily may also be characterized by: life. Symptoms may include speech delay, programs low muscle tone and poor coordination, learning disabilities, and tall stature. There may also be anxiety, depression, attention difficulties deficits, and social immaturity. Intellectual disability is not common but may affect a Adults may take several years longer to devel- few. It is rare to have all symptoms. op the emotional maturity to become self- supporting Most symptoms can be addressed and capable of living independently. Interventions successfully by early diagnosis and Occasionally, hypogonadism that may be helpful include: detection, and with appropriate treatments (failure of testes to produce such as speech and occupational therapy. adequate male hormone) Special education services are indicated if there are learning disabilities. Persons with Dental health preservation/restoration Men with 47,XYY are typically A healthy diet and regular exercise to maintain SCA may be somewhat slower achieving capable of fathering children and do maturity as adults, but many live cardiovascular health not have lowered fertility. The chances independently, have careers, and form of passing on the extra Y chromosome Occasionally, a boy with 47,XYY fails to complete families and typical adult relationships. are very small, but couples may wish puberty or an adult experiences testicular failure, to have genetic counseling before resulting in hypogonadism. This can be treated becoming pregnant. with hormone replacement by an experienced endocrinologist.