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Case Reports
. 1993 Nov;30(11):964-5.
doi: 10.1136/jmg.30.11.964.

Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype

J Jenderny  1 , A Caliebe, C Beyer, W Grote
Affiliations
Case Reports

Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype

J Jenderny et al. J Med Genet. 1993 Nov.

Abstract

A 6 month old patient is reported with a ring chromosome 18 confirmed by cytogenetic studies and in situ hybridisation. Her clinical features were similar to previous cases of ring chromosome 18 syndrome. The ring chromosome was inherited from the phenotypically and mentally normal mother with a mos 46,XX/47,XX, + r(18) karyotype.

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