RT Journal Article
SR Electronic
T1 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.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 964
OP 965
DO 10.1136/jmg.30.11.964
VO 30
IS 11
A1 J Jenderny
A1 A Caliebe
A1 C Beyer
A1 W Grote
YR 1993
UL http://jmg.bmj.com/content/30/11/964.abstract
AB 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.