Presentation
This condition occurs only in females, as there are no Y chromosomes present. Tetrasomy X was first described in 1961, and since then approximately 100 cases have been reported worldwide. [dbpedia.org]
Skeletal problems may also be present, including abnormal curvatures of the spine. [en.wikipedia.org]
Expert reviewer(s): Dr Natalie AYARI - Dr A BERGE - Dr Susan HOWELL - Dr Nicole TARTAGLIA - Last update: January 2010 The documents contained in this web site are presented for information purposes only. [orpha.net]
Figure 3. a) Front-view of patient’s hands presenting camptodactyly and adducted thumbs, b) frontview of feet, showing adduction of toes. [scielo.org.ar]
While the artist presents his own takes on these sounds he offers them only as his personal re-mixes. [art.colorado.edu]
Entire Body System
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Increased Susceptibility to Infections
An increased susceptibility to infections during childhood has also been reported. Etiology Tetrasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis. [orpha.net]
Musculoskeletal
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Joint Limitation
An informal study of twenty girls with tetrasomy and pentasomy X found that 10 percent of patients had joint laxity in the hips, while 20 percent had joint limitations. [ clarification needed ] [ citation needed ] Developmentally, people with tetrasomy [en.wikipedia.org]
Neurologic
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Muscle Tone Abnormalities
Many also show joint and muscle tone abnormalities, including hypotonia and joint looseness in the hips. Skeletal problems may also be present, including abnormal curvatures of the spine. [en.wikipedia.org]
Treatment
Traditionally, treatment for tetrasomy X has been management of the symptoms and support for learning. [en.wikipedia.org]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
The latter will allow the patient to receive early and proper treatment, specifically for the ophthalmological and audiological features. Also, neurological, cardiac and gastrointestinal follow-ups would prevent the described clinical implications. [scielo.org.ar]
Prognosis
Treatment and prognosis The general prognosis for girls with tetrasomy X is relatively good. Due to the variability of symptoms, some tetrasomy X girls are able to function normally, whereas others will need medical attention throughout their lives. [en.wikipedia.org]
Future reports will allow to establish accurate data on its incidence and prognosis, raising awareness of its relevance to physicians. [scielo.org.ar]
Etiology
Etiology Tetrasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis. [orpha.net]
At the suspicion of this etiology, it is important to detect small supernumerary i(18p) by cytogenetic analysis, FISH, PCR, MLPA and, in some cases, array techniques. Parental testing is highly recommended. [scielo.org.ar]
Epidemiology
Summary Epidemiology Prevalence is unknown but only around 40 cases have been reported in the literature so far. Clinical description Tetrasomy X is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. [orpha.net]
Prevention
Most girls are placed on estrogen treatment to induce breast development, arrest longitudinal growth, and stimulate bone formation to prevent osteoporosis. [en.wikipedia.org]
Also, neurological, cardiac and gastrointestinal follow-ups would prevent the described clinical implications. It is important to give genetic counseling to the guardians. BIBLIOGRAPHY 1. [scielo.org.ar]