The Focus Foundation: X a& Y Variations X & Y Variations
As a neurogenetic disorder, X & Y Variations are known by many names, among them: Sex Chromosome Disorders, X & Y Chromosomal Variations,
Sex Chromosome Anaomaly and Sex Chromosome Aneuploidy Variations. Within the disorder are many sub-categories, which are
identified by names including Klinefelter Syndrome, 49 XXXXY, Tetrasomy X, 49 XXXXXX, Pentasomy X, 48 XXY and 47 XXY.
X & Y Variations are common but frequently undiagnosed genetic conditions that differ from the normal sex chromosome pairings of XX
for females and XY for males. Due to a chromosomal mistake that produces additional X or Y chromosome to the normal complement of 46, the
resulting total of 47 chromosomes (or more) may impact a child's developing central nervous system and his or her body condition.
The Focus Foundation's efforts are geared toward 3 of the 4 known X & Y Variation disorders. The fourth, called Turner Syndrome, occurs in one
out of 2,000 live female births and is actively and effectively served by The Turner Syndrome Society. Of the other three variations:
XXY occurs in 1 out of 650 live births
XXX occurs in 1 out of 900 live births
XYY occurs in 1 out of 1,000 live births
Widespread misinformation about these conditions cause unnecessary distress to families dealing with such a diagnosis:
Contrary to common belief, people with X & Y Variations are often bright and exceptionally talented in perceptual tasks (such as design and
They can play a variety of sports.
They typically do not have Autistic Spectrum Disorder.
They generally are not hermaphrodites, asexual or sexually confused, and they do not have an increased incidence
of homosexual or transgender behavior based on current published scientific literature.
They are not always infertile (although they can have low fertility).
They are not characteristically prone to violence or criminal activity.
And they do not have an increased incidence of mental retardation, provided that their chromosomal variant is identified early and they
are given appropriate targeted treatment and syndrome specific goals.
With the proper diagnosis and help, these children can succeed at higher education and lead productive, independent lives.
More than 500,000 people in the United States are believed to have a Sex Chromosome Anomaly. Research reveals that every day 20 children will be
born with XXY, XXX and XYY chromosomal disorders and only 5 of those 20 will be diagnosed in their lifetime and receive appropriate treatment.
Ten to twenty percent of these disorders are identified from amniocentesis completed because of advanced maternal age.
Although these disorders are associated with language-based learning disabilities, children remain largely undiagnosed because their
neurodevelopmental problems are often perceived as "just a speech or motor delay" or, as children become older, "merely a learning disability."
To identify children with neurodevelopmental disorders as early as possible.
To prevent language-based learning disorders
To provide children with appropriate, targeted treatment and intervention
To promote recovery and normalization as well as address the neurodevelopmental
issues involved through syndrome-specific goals.
The photographs used on this website are for illustration purposes only.
OUR MISSION The Focus Foundation is dedicated to helping children and families affected by X & Y Variations, Dyslexia, and/or Developmental Dyspraxia.
The Focus Foundation believes that through increased awareness, early identification and syndrome-specific treatment, children with these
conditions can reach their full potential.