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]

• Trisomy 21

  Medical literature reports four tetra-X pregnancies, two healthy, one with trisomy 21, one stillborn with omphalocele. [en.wikipedia.org]

• Atrial Septal Defect

  Several cardiac defects have also been reported, including ventricular/atrial septal defects, atresia, hypoplastic right heart syndrome, patent ductus arteriosus, and conotruncal or valvular cardiac defects. [en.wikipedia.org]

• Seizure

  Tetrasomy X patients also appear to be more prone to seizure activity, although there is no documented abnormalities in brain function or structure when analyzed using an EEG or MRI. [en.wikipedia.org]

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]

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 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]

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]

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]