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  • Title: Recombinant chromosome 18 resulting from a maternal pericentric inversion.
    Author: Ayukawa H, Tsukahara M, Fukuda M, Kondoh O.
    Journal: Am J Med Genet; 1994 May 01; 50(4):323-5. PubMed ID: 8209910.
    Abstract:
    We report on a newborn girl with duplication of 18q12.2-->18qter and deficiency of 18p11.2-->18pter which resulted from meiotic recombination of the maternal pericentric inversion, inv(18)(p11.2q12.2). Her clinical manifestations were compatible with those of partial trisomy 18q syndrome. We review the previously reported 9 cases in 8 families of rec(18) resulting from recombination of a parental pericentric inversion.
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