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Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material. More detailed information about the symptoms, causes, and treatments of Chromosome 13q deletion syndrome is available below.
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Deletion of the long arm of chromosome 13 with a wide spectrum of abnormalities, including retinoblastoma, mental and growth retardation, brain malformations, heart defects, distal limb deformities, and digestive, urogenital, and other abnormalities. Deletions limited to proximal bands (q13-q31) are marked mainly by growth retardation but no major deformities, those involving band 32q are usually associated with numerous major malformations, and distal deletions are usually complicated by severe mental retardation with comparatively minor abnormalities. Garcia-Lurie syndrome and this disorder share many common clinical features. - (Source - Diseases Database)
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