Summary
We report a malformed female infant withde novo interstitial deletion of 4q[46,XX,del(4)(q27q28.2)]. The MN blood type analysis of the family members showed that the patient had an intact blood group-MN locus. The locus of the gene responsible for the MN antigen activity is confined to a 4q28.2–4q31.1 segment on the basis of the result of this patient and the previous mapping data.
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Wakui, K., Nishida, T., Masuda, Ji. et al. De novo interstitial deletion of 4q[46,XX,del(4)(q27q28.2)] with intact blood group-MN locus, confining its locus to 4q28.2–4q31.1. Jap J Human Genet 36, 149–153 (1991). https://doi.org/10.1007/BF01876577
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DOI: https://doi.org/10.1007/BF01876577