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Myths about 48,XXYY (and why they are just myths!)

Boys with 48,XXYY consistently present with Language-Based Learning Disabilities (LLD) and Motor Planning Issues that are related to the high rate of dyslexia associated with the disorder

However, they seem to be stronger in math and visual-spatial activities such as puzzles or remembering directions

Intellectual disabilities are common in 48,XXYY, with average full-scale IQs in the range of 70-80

Verbal IQs are seen to be significantly lower than performance IQs, due to language-based learning difficulties

Boys with 48,XXYY may have low testosterone, which can affect development and fertility

Several studies and case reports have shown that the use of testosterone therapy can improve behavior and other symptoms for boys with 48,XXYY in a safe manner

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XXYY affects as many as 1 in 18,000 boys.

X & Y Chromosomal Variations are commonly misdiagnosed as only being speech or motor delays, leaving many affected children undiagnosed

ADHD is commonly seen in boys with XXYY, as well as Autism Spectrum Disorder to a lesser extent

Adults with XXYY are typical tall in stature, with estimates of average height between 6’0” and 6’4”

Boys with XXYY usually develop a tremor during adolescence which typically worsens as they age

Dental problems are common with XXYY, with delays in the development of “baby” and “adult” teeth as well as thin enamel, cavities, and misaligned teeth

THE FACTS

As many as 1 in 18,000 boys are affected by 48, XXYY. They consistently present with Language-Based Learning Disabilities (LLD) and Motor Planning issues that are related to the high rate of dyslexia associated with the disorder. However, they seem to be stronger in math and visual-spatial activities, such as assembling puzzles or remembering directions. ADHD is commonly seen in boys with XXYY, as well as Autism Spectrum Disorder, to a lesser extent.

Boys with 48, XXYY may have low testosterone, which can affect development and fertility. Several studies and case reports have shown that the use of testosterone therapy in a safe manner can improve behavior and other symptoms for boys with 48, XXYY.

48, XXYY boys usually develop a tremor during adolescence which typically worsens as they age. Dental problems are common, with delays in the development of “baby” and “adult” teeth, as well as issues with thin enamel, cavities, and misaligned teeth. Adults with 48, XXYY are typically tall in stature, with estimates of average height between 6’0” and 6’4”.

Intellectual disabilities are common in 48, XXYY, with average full-scale IQs in the range of 70-80.
Verbal IQs are seen to be significantly lower than performance IQs, due to language-based learning difficulties.

Our X & Y Disorder Research

The Focus Foundation’s efforts are geared toward X & Y Chromosomal Variations including: 47, XXY (Klinefelter syndrome), 47, XYY (Jacob’s syndrome), 47, XXX (Triple X), 48, XXXX (Tetrasomy X), 48, XXXY, and 49, XXXXY. For further information on Klinefelter syndrome, Jacob’s syndrome, and some of the less commonly occurring X and Y disorders, click on the links that follow:

47,XXY (occurs in 1 out of 650 live births)

Only 25% of males with 47,XXY are ever diagnosed during their lifetimes; fewer than 10% of 47,XXY individuals are identified prior to adolescence. This means that millions of affected children remain undiagnosed–often because they are commonly misdiagnosed as simply having speech or motor delays. More than 500,000 people are believed to have 47,XXY disorders in the United States alone, with an equal distribution across all racial and socio-economic groups.

Testosterone replacement has been shown to have a positive impact on brain function through 9 years of age in multiple research studies over the last 20 years. Thus, it is important to consider early hormonal replacement therapy (EHT) for 47,XXY boys who experience decreased testosterone production during critical developmental periods.…READ MORE

47,XYY (occurs in 1 out of 1,000 live births)

At least 85% of those with 47,XYY are never diagnosed. 47,XYY boys consistently present with language-based Learning Disabilities and difficulties with Motor Planning–both issues that are related to the high rate of dyspraxia and dyslexia associated with the disorder. However, 47,XYY boys are commonly misdiagnosed as simply having speech or motor delays.

Boys with 47,XYY typically reach an average height of between 6’3” and 6’5”…READ MORE

47,XXX (occurs in 1 out of 900 live births)

As many as 1 in 900 girls have 47,XXX. Unfortunately, millions of affected girls are undiagnosed. Girls who are prenatally diagnosed and receive early intervention services typically exhibit fewer and less severe cognitive disabilities.

There is an equal distribution of 47,XXX across all racial and socio-economic groups…READ MORE

48,XXYY (occurs in 1 out of 18,000 live male births)

Boys with 48,XXYY consistently exhibit Language-Based Learning Disabilities (LLD) and difficulties with Motor Planning, issues that are related to the high rate of dyslexia associated with the disorder. However, they seem to be stronger in math and such visual-spatial activities as assembling puzzles or remembering directions.

Intellectual disabilities are common in 48,XXYY, with average full-scale IQs in the range of 70-80. Verbal IQs are seen to be significantly lower than performance IQs, due to language-based learning difficulties…READ MORE

48,XXXX (100 cases have been reported)

48,XXXX (also known as Tetrasomy X or Tetra X) is a rare sex chromosome disorder that was first identified in the early 1960s. Since that time, approximately 100 cases have been reported, although less than 50 are described in scientific literature. Due to the scarcity of this female chromosomal variation, it is difficult to define a common phenotypic presentation. A lack of congenital malformations, mild dysmorphology, and varied developmental trajectory suggests that 48,XXXX is largely underdiagnosed…READ MORE

48,XXXY (occurs in 1 in 18,000 to 1 in 40,000 male births)

48,XXXY can result from meiotic or mitotic nondisjunction (errors in chromosomal separation) and is often considered a variant of Klinefelter syndrome (47,XXY). However, boys with 48,XXXY often exhibit a more complicated neurodevelopmental profile than boys with 47,XXY…READ MORE

49,XXXXY (occurs in 1 in 85,000 to 1 in 100,000 live male births)

The first case of 49,XXXXY syndrome was reported in the 1970s, and this chromosomal variation remains one of the rarest sex chromosome disorders. 49,XXXXY results from nondisjunction (errors in chromosomal separation) of the X chromosome occurring during both Meiosis I and Meiosis II…READ MORE

49,XXXXX Pentasomy X (40 females reported since 2011)

Penta X Syndrome is an extremely rare chromosomal disorder that only affects females. While girls normally only have two X chromosomes, girls with Penta X have five X chromosomes. As of 2011, less than 40 cases have been reported.…READ MORE

Klinefelter Syndrome & Other Names You May hear

X & Y Chromosomal Variations are a neurogenetic disorder referred to by many other names, including Sex Chromosome Disorders, X & Y Chromosomal Variations, Sex Chromosome Anomaly, and Sex Chromosome Aneuploidy Variations. (Aneuploidy refers to a number of chromosomes besides 46, the standard number in humans.) The sub-categories that exist within X & Y Chromosomal Variations are identified by names that include 47, XXY (Klinefelter syndrome), 47, XYY (Jacob’s syndrome), 47, XXX (Triple X), 49, XXXXY, Tetrasomy X, Pentasomy X, 49, XXXXXX, and 48, XXXY.

What You Can Do Now

If you have received a prenatal diagnosis indicating that your child has an X & Y chromosomal variation, or feel that your son or daughter is experiencing developmental delays or developmental dysfunction, the following options are designed to help you take the next step in securing appropriate treatment or an early diagnosis.

RESEARCH

Take The Child Questionnaire
QUESTIONNAIRE

DIAGNOSIS

Learn About Chromosomal Microarray
CHROMOSOMAL TESTING

TREATMENT

Syndrome-specific Therapy
ARRANGE A CONSULTATION
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