47,XXX (trisomy x)

Article Title: A review of trisomy X (47,XXX)

Authors: Nicole Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson, and Lennie Wilson

Date of Publication: May 2010

“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.”

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Article Title: Triple X syndrome: a review of the literature

Authors: Otter, Schrander-Stumpel, and Curfs

Date of Publication: July 1, 2009

“Triple X syndrome is a syndrome with a high level of variety in the physical and behavioural phenotype. Triple X syndrome is not rare, but it is often undiagnosed. Notwithstanding the relatively high prevalence of triple X syndrome, there are many issues yet to be studied in physical and behavioural development up to old age.”

“Above all, further study is needed to establish evidence-based treatment and support protocols in physical treatments (endocrinological treatment, fertility issues and treatment in cases with EEG anomalies in relation to behaviour, etc.), educational support, psychiatric diagnosis and treatment, and psychological treatment, such as psychotherapy and family therapy.”

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