Summary
Two female cases with r(14) syndrome, aged 14 and 16, were reported. Both cases had mental retardation, microcephaly, growth retardation, epilepsy and ataxia. But craniofacial dysmorphic features, typical to r(14) syndrome, were rarely observed. Bone mineral content was decreased in one of the cases. The cataracta and abnormal pigmentation of the retinae was observed in one of the cases.
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References
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Ieshima, A., Takeshita, K. & Yamamoto, K. Ring 14 syndrome with decreased bone mineral content in two pubertal girls. Jap J Human Genet 28, 35–43 (1983). https://doi.org/10.1007/BF01897046
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DOI: https://doi.org/10.1007/BF01897046
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