PT  - JOURNAL ARTICLE
AU  - L Karp
AU  - J I Bryant
AU  - G Tagatz
AU  - E Giblett
AU  - P J Fialkow
TI  - The occurrence of gonadal dysgenesis in association with monozygotic twinning.
AID  - 10.1136/jmg.12.1.70
DP  - 1975 Mar 01
TA  - Journal of Medical Genetics
PG  - 70--78
VI  - 12
IP  - 1
4099  - http://jmg.bmj.com/content/12/1/70.short
4100  - http://jmg.bmj.com/content/12/1/70.full
SO  - J Med Genet1975 Mar 01; 12
AB  - A case is presented of a monozygotic twin pair, discordant for phenotypic sex, in which the female member showed gonadal dysgenesis and chromosomal mosaicism. Review of the pertinent literature reveals that in monozygotic twin pairs, phenotypic and karyotypic concordance is the usual occurrence for Down's and Klinefelter's syndromes, whereas discordance often accompanies gonadal dysgenesis. Mosaicism is a frequent concomitant of gonadal dysgenesis in monozygotic twins. Our case strengthens the probability of a real association between mosaicism and monozygotic twinning in gonadal dysgenesis.