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  • Title: Terminal deletion of the short arm of chromosome 3.
    Author: Asai M, Ito Y, Iguchi T, Ito J, Okada N, Oishi H.
    Journal: Jpn J Hum Genet; 1992 Jun; 37(2):163-8. PubMed ID: 1391972.
    Abstract:
    A boy with growth and mental retardation, flat occiput, high and broad forehead, blepharoptosis, narrow palpebral fissures, low set, malformed ears, short neck, anal atresia, deep sacral dimple is reported. High-resolution banding analysis showed terminal deletion of the short arm of chromosome 3 (46,XY,del(3)(p25.3)). Deletions of the short arm of chromosome 3 are relatively rare. The clinical features of the patient are compared with those of 19 previously reported cases.
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