Summary
A further case of partial trisomy 2p inherited from a maternal balanced translocation with a karyotype of 46,XX,t(2;15)(p21;q26) is reported. The female patient had an unbalanced karyotype with duplication of the distal part of the short arm of chromosome 2 (region 2p21→2pter). On the basis of the cytogenetic finding, clinical features of this patient were compared with those of the reported two cases with the similar duplication of region 2p21→2pter. The clinical features common to the three cases were hypertelorism, triangular face, large abnormal ears, congenital heart defect and long fingers, but microcephaly, prominent nasal bridge and long toes noted in the reported cases were replaced with hydrocephalus, wide, flat nasal bridge and short toes in the present case.
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Detailed clinical report was presented at the 81st Annual Meeting of the Societas Paediatrica Japonica (Iwatsuboet al., 1978).
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Kishi, K., Matsutani, Y., Iwatsubo, T. et al. A case of partial trisomy 2p (region 2p21→2pter) derived from a maternal t(2;15)(p21;q26). Jap J Human Genet 25, 47–53 (1980). https://doi.org/10.1007/BF01876545
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DOI: https://doi.org/10.1007/BF01876545