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Penta X syndrome is a very rare chromosomal disorder where the karotype of the patient is 49, XXXXX. This means that there are 2 X chromosomes making the patient phenotypically female but there are an additional 3 X chromosomes. The patient exhibits certain features which could be confused with Down’s syndrome. They have low-set, abnormal ears, slanting palpebral fissures and a flat nasal bridge. They may also have a low hairline, clinodactyly (curavture of the digits), poor tone[1] and heart/kidney defects[2].
Girls with Penta X syndrome can also have variable levels of learning disability from moderate to severe.
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