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Review
. 1994 May 1;50(4):323-5.
doi: 10.1002/ajmg.1320500405.

Recombinant chromosome 18 resulting from a maternal pericentric inversion

H Ayukawa  1 , M Tsukahara, M Fukuda, O Kondoh
Affiliations
Review

Recombinant chromosome 18 resulting from a maternal pericentric inversion

H Ayukawa et al. Am J Med Genet. .

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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