Summary
An 18-day-old girl with a rec(3), dup(q21→qter), del(p25→pter) karyotype is presented. She was the first product of the mother who had a pericentric inversion, inv(3) (p25q21). The clinical features of this patient are compared with those of 6 previously reported cases.
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Fineman, R.M., Hecht, F., Ablow, R.C., Howard, R.O., and Breg, W.R. 1978. Chromosome 3 Duplication q/Deletion p syndrome.Pediatrics 61: 611–618.
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Kawashima, H., Maruyama, S. A case of chromosome 3 duplication q deletion p syndrome born to the mother with a pericentric inversion, inv(3)(p25q21). Jap J Human Genet 24, 9–12 (1979). https://doi.org/10.1007/BF01890106
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DOI: https://doi.org/10.1007/BF01890106