Summary
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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Asai, M., Ito, Y., Iguchi, T. et al. Terminal deletion of the short arm of chromosome 3. Jap J Human Genet 37, 163–168 (1992). https://doi.org/10.1007/BF01899740
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DOI: https://doi.org/10.1007/BF01899740