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Chromosome 12 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 12 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing. More detailed information about the symptoms, causes, and treatments of Chromosome 12 ring syndrome is available below.
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Prognosis for Chromosome 12 ring syndrome: The prognosis varies considerably depending on the type and severity of symptoms that develop. Prompt diagnosis and appropriate treatment can improve prognosis and quality of life.
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An abnormality in which both ends of a chromosome have been lost (deletion) and the two broken ends reunited to form a ring-shaped figure. Abnormalities include short stature, microcephaly, mental deficiency, characteristic facies, highly arched palate, clinodactyly, and other defects. - (Source - Diseases Database)
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