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X and Y Chromosomal Variations - The Focus Foundation

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X and Y Chromosomal Variations - The Focus Foundation

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X and Y Chromosomal Variations - The Focus Foundation

2020 Summer Olympics in Tokyo in 2021

The 2020 Summer Olympics in Tokyo has finally begun on July 23, 2021! The Focus Foundation shared some history, fun facts, and activities about the Olympics. Learn more.

X and Y Chromosomal Variations - The Focus Foundation

X & Y Chromosomal Variation Disorders

The Focus Foundation is the first and only research-based agency exclusively dedicated to identifying and assisting families and children who have X & Y Chromosomal Variations (Sex Chromosome Disorders), Dyslexia and Developmental Dyspraxia.

Within the X & Y Variations disorders, there are three common variations which are 47,XXY, 47, XYY and 47, XXX. These disorders may be called other names including Klinefelter syndrome (47, XXY), Triple X (47, XXX) and Jacob’s syndrome (47, XYY).

There are also children with rare variant disorders of X and Y variations including 48,XXXY and 49,XXXXY, Tetrasomy X (48,XXXX), Pentasomy X( 49, XXXXX).

Physicians and ancillary health care providers such as physical therapists (PT) occupational therapists (OT), speech and language pathologists (SLP) and psychologists learn that neurogenetic abnormalities typically impact a child’s development in a variety of ways.  During their professional training, they often receive inaccurate or out of date information. The most current information is necessary for all of children and their genetic disorders so they can receive optimal care. 

Any child with neurodevelopmental differences should be screened for X & Y Variations including ADHD, anxiety, learning disabilities, dyslexia, developmental delay or behavioral problems.

The Focus Foundation’s research and awareness campaign wants all practitioners to think of   X and Y Chromosomal Disorders whenever children are struggling in any domain of development.

Symptoms of X & Y Disorders


Dyslexia is a specific learning disability that is neurological in origin and impacts word recognition, reading and decoding abilities; it’s believed to be present in up to 10 percent of the U.S. population.

Dyslexia typically results from a deficit in the phonological component of language that is often unexpected in relation to other cognitive abilities and the provision of effective classroom instruction.

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Developmental Dyspraxia, also referred to as Childhood Apraxia of Speech, is characterized by impairment in the ability to plan and carry out sensory and motor tasks. Generally, individuals with the disorder appear “out of sync” with their environment.

Symptoms vary and may include poor balance and coordination, clumsiness, bad vision, perception hardships, emotional challenges and more.

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Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder involving the common pattern of hyperactivity, impulsivity and/or inattention that interferes with development and learning.

Children with ADHD have problems organizing and executing tasks in school and other areas of their life. They can easily be distracted and often times cannot sit still for very long.

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Early Diagnosis

It’s believed that 40 percent of all children with neurodevelopmental delays could have an undiagnosed genetic disorder. Parents with a child who has developmental delays or developmental dysfunction should consider completing our X and Y questionnaire. If there are three or more “Yes” then print the questionnaire and discuss the findings with your primary care provider. Three or more questions answered “Yes” suggest that your child may be at risk for X and Y chromosomal disorders.

Your child’s primary care provider may want to consider a chromosomal analysis or provide a referral to a clinical geneticist for an evaluation. Such an evaluation and lab testing should:

– Determine if the child has the appropriate number of chromosomes (46)

– Rule out deletions (missing pieces of chromosomal material) or additions (excess chromosomal material). These findings are important for diagnosing genetic syndromes, identifying related medical issues and developing appropriate, targeted treatment plans. Help is available. Click below to take the child questionnaire.

X and Y Chromosomal Variations - The Focus Foundation

Is Your Child an “Atypical” Learner at Risk for X and Y Chromosomal Variations?

Children who exhibit the following symptoms are considered atypical learners and could have an X & Y Variation:

Late crawling or Walking
Quiet Baby who has delayed speech development
Walked after 15 months
Had trouble latching to the breast
Difficulty interacting with peers
Very shy and quiet especially around new people
Short attention span
Trouble with reading, writing and/or math
Behavior problems
Seems to be “just a step behind” his or her peers

Prenatal Diagnosis: The Next Step

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