Disorders of the eye include myopia , nystagmus , coloboma , microphthalmus, or optic nerve hypoplasia. Treatment and prognosis The general prognosis for girls with tetrasomy X is relatively good. The majority have also been reported as being longer and taller.
Developmentally, people with tetrasomy X frequently show mild delays in the areas of speech development and articulation, language expression and understanding, and reading skills. In terms of internal organ systems, tetrasomy X patients may have abnormal vision, hearing, circulatory systems, kidneys, or nervous systems. Delays in motor development are also present, with walking ages ranging from 16 months to 4. Speech, occupational, and physical therapy may also be needed depending on the severity of the symptoms. Most girls are placed on estrogen treatment to induce breast development, arrest longitudinal growth, and stimulate bone formation to prevent osteoporosis. Medical literature reports four tetra-X pregnancies, two healthy, one with trisomy 21 , one stillborn with omphalocele. In terms of hearing, patients are more prone to ear infections , sound blockage, or nerve abnormalities. Treatment and prognosis The general prognosis for girls with tetrasomy X is relatively good. In this species genetic sex differentiation works like this: Tetrasomy X is usually suspected based on symptoms present in the individual and is confirmed via karyotyping , which reveals the extra X chromosomes. Disorders of the eye include myopia , nystagmus , coloboma , microphthalmus, or optic nerve hypoplasia. 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. Skeletal problems may also be present, including abnormal curvatures of the spine. Many also show joint and muscle tone abnormalities, including hypotonia and joint looseness in the hips. Traditionally, treatment for tetrasomy X has been management of the symptoms and support for learning. The majority have also been reported as being longer and taller. Causes and diagnosis Tetrasomy X is a chromosomal aneuploidy , meaning it arises from a defect in meiosis. Other species With the Echidna , this kind of chromosomal arrangement is normal. Symptoms are often similar to those of trisomy X. Due to the variability of symptoms, some tetrasomy X girls are able to function normally, whereas others will need medical attention throughout their lives.
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