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/

Authors
JENDERNY J CALIEBE A BEYER C GROTE W
Citation
J. Jenderny et al., 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/, Journal of Medical Genetics, 30(11), 1993, pp. 964-965
Citations number
13
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
30
Issue
11
Year of publication
1993
Pages
964 - 965
Database
ISI
SICI code
0022-2593(1993)30:11<964:TOARCF>2.0.ZU;2-Q
Abstract
A 6 month old patient is reported with a ring chromosome 18 confirmed by cytogenetic studies and in situ hybridisation. Her clinical feature s were similar to previous cases of ring chromosome 18 syndrome. The r ing chromosome was inherited from the phenotypically and mentally norm al mother with a mos 46,XX/47,XX, + r(18) karyotype.