Wednesday, April 16, 2014

Tell Me About Trisomy-X


Trisomy X Library Resources

GUIDEBOOK:  Living with Klinefelter Syndrome (47,XXY) Trisomy X (47,XXX) and 47,XYY:
A Guide for Families and Individuals Affected by Extra X and Y Chromosomes

            Trisomy X Brochure

  Frequently Asked Questions Related to Trisomy X (47,XXX) (Printable PDF)

  INTERACTIVE FAQ  (note:  be sure to apply condition filter "Trisomy X" to eliminate extraneous Q&A)

Important Trisomy X Study:  Click here for information and to participate

Article: "A Review of Trisomy X (47, XXX)"

By: Nicole R Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson, and Lennie L. Wilson 
Orphanet Journal of Rare Diseases 2010, 5:8doi:10.1186/1750-1172-5-8


Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. As some individuals are only mildly affected or asymptomatic, it is estimated that only 10% of individuals with trisomy X are actually diagnosed. The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly. Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF) can also be associated findings. Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years. Psychological features including attention deficits, mood disorders (anxiety and depression), and other psychological disorders are also more common than in the general population. Trisomy X most commonly occurs as a result of nondisjunction during meiosis, although postzygotic nondisjunction occurs in approximately 20% of cases. The risk of trisomy X increases with advanced maternal age. The phenotype in trisomy X is hypothesized to result from overexpression of genes that escape X-inactivation, but genotype-phenotype relationships remain to be defined. Diagnosis during the prenatal period by amniocentesis or chorionic villi sampling is common. Indications for postnatal diagnoses most commonly include developmental delays or hypotonia, learning disabilities, emotional or behavioral difficulties, or POF. Differential diagnosis prior to definitive karotype results includes fragile X, tetrasomy X, pentasomy X, and Turner syndrome mosaicism. Genetic counseling is recommended. Patients diagnosed in the prenatal period should be followed closely for developmental delays so that early intervention therapies can be implemented as needed. School-age children and adolescents benefit from a psychological evaluation with an emphasis on identifying and developing an intervention plan for problems in cognitive/academic skills, language, and/or social-emotional development. Adolescents and adult women presenting with late menarche, menstrual irregularities, or fertility problems should be evaluated for POF. Patients should be referred to support organizations to receive individual and family support. The prognosis is variable, depending on the severity of the manifestations and on the quality and timing of treatment.

To download the full article, go to the Orphanet Journal of Rare Diseases
personal dedication from co-author, Lennie Wilson

Idioma Español - Spanish Language Version

More Resources for Trisomy X

Triple X syndrome
(Mayo Clinic)

Triple X syndrome 
(Genetics Home Reference)

Triple X syndrome: a review of the literature
(European Journal of Human Genetics)

'An Extra X in Your Genes'
 by Diana Dekker

This book is telling my personal story about learning to deal with several symptoms of the Trisomy X syndrome
It is the English translation of my Dutch book 'Een extra X in je genen'
Like my Dutch book it will be printed in Arial 18
After I published my book 'Mijn extra X', which is only in Dutch at the moment, many people asked me to write my personal story in another version, which will be more understandable to children and people who have problems with reading 'normal' books
So I did...
Click here to learn more about the contents of the book and to order.

Click here for alternate ordering site.
Diana Divera personal story.
Copyright 2014 by KS&A