Summary
A new case of ring chromosome 2 is described and compared with the five cases hitherto reported. The clinical picture includes a severe pre- and postnatal growth failure, microcephaly, psychomotor retardation, and some minor dysmorphic features. Cytogenetic studies revealed a ring 2 structure and aneuploidy. Banding analysis failed to demonstrate a substantial loss of chromosomal material. Enzymologic studies revealed a decrease of red cell acid phosphatase activity suggesting the localization of its gene in the 2p25→2pter region.
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Jansen, M., Beemer, F.A., van der Heiden, C. et al. Ring chromosome 2: Clinical, chromosomal, and biochemical aspects. Hum Genet 60, 91–95 (1982). https://doi.org/10.1007/BF00281274
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DOI: https://doi.org/10.1007/BF00281274