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Recombinant chromosome 18 resulting from a maternal pericentric inversion

✍ Scribed by Ayukawa, Hiroshi ;Tsukahara, Masato ;Fukuda, Masamichi ;Kondoh, Osamu

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
231 KB
Volume
50
Category
Article
ISSN
0148-7299

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✦ Synopsis

Abstract

We report on a newborn girl with duplication of 18q12.2β†’18qter and deficiency of 18p11.2β†’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. Β© 1994 Wiley‐Liss, Inc.

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