Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).
Comprehensive, easy-to-understand information about this condition
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Neu-Laxova syndrome
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inclusion body myopathy with Paget disease of bone and frontotemporal dementia
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syndromic intellectual disability
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abdominal obesity-metabolic syndrome
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fibrogenesis imperfecta ossium
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Fanconi renotubular syndrome
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