X & Y Chromosome Variations
Also known as Sex Chromosome Anomaly, Sex Chromosome Abnormality, Sex Chromosome Aneuploidy, Klinefelter Syndrome, XXY, XYY, XXYY, XXX, Trisomy X, Triplo X, Triple X, XXXX, tetrasomy X, XXXXX, and Pentasomy X
eXtraordinarY Kids Clinic
The eXtraordinarY Kids Clinic at the Children’s Hospital in Colorado is a unique multi-disciplinary clinic for children with X&Y Chromosome Variations. Children and their parents have the opportunity to meet with professionals who have significant experience with these conditions including a developmental pediatrician, endocrinologist, speech therapist, occupational therapist, clinical psychologist, neuropsychologist and a genetic counselor.
After a clinical evaluation, the family receives a comprehensive report detailing specific recommendations for the child based on their condition and assessment in order to support the child’s development, academic, and emotional needs, as well as necessary medical management.
The clinic also provides developmental follow-up for children with X&Y Chromosome Variations diagnosed in the prenatal period to help enhance development and screen for the need for early intervention therapies. Dr. Nicole Tartaglia is the Clinic Director and conducts research on the neurodevelopment and genetic features of these conditions.
What are the signs and symptoms of X&Y Chromosome Variations?
The signs and symptoms of X&Y Chromosome Variations vary and depend on the number of extra X and/or Y chromosomes.
While some individuals with X&Y Chromosome Variations go undiagnosed, signs of these conditions often include developmental delays, learning disabilities and behavior problems. Tall stature, small testicles, pubertal delays (for males with additional X chromosomes), speech delays, reading disabilities, ADHD, anxiety, mood instability and subtle physical traits can also be features in some children and young adults.
Any of these features may lead physicians to recommend chromosome testing. Typically signs and symptoms of X&Y Chromosome Variations are more apparent in individuals with a greater number of X or Y chromosomes.
How do you diagnose it, and how is it treated?
X&Y chromosome variations are identified by a chromosome analysis, also known as a karyotype.
The treatment depends on the particular child’s needs. Often treatment involves interventions, including therapies and special education to address learning disabilities, gross and/or fine motor delays, speech delays. Counseling and/or medications may be recommended to help children with behavioral, emotional, or social issues. Males with an extra X chromosome (XXY/Klinefelter Syndrome, XXYY, XXXY, etc) also need endocrinologic care for testosterone treatment starting in puberty.
Who gets it, and can it be prevented?
Children are born with X&Y Chromosome Variations. These conditions are caused by a mis-division of the X and/or Y chromosomes in the process of developing either the egg or the sperm involved in conception. It is not known what causes this to happen and these conditions are typically not inherited.
When should I seek medical attention?
Children with X&Y Chromosome Variations can often benefit from early interventions for speech delays, gross and fine motor delays, learning disabilities, behavioral issues, and/or social deficits. Therefore, it is highly recommended that children with X&Y Chromosome Variations be seen for a developmental, psychological and medical evaluation shortly after receiving a diagnosis.
For more information or to set up an appointment please contact the eXtraordinarY Kids Clinic Coordinator, Susan Howell at (720) 777-8361.
Additional Resources
