RT Journal Article
SR Electronic
T1 The occurrence of gonadal dysgenesis in association with monozygotic twinning.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 70
OP 78
DO 10.1136/jmg.12.1.70
VO 12
IS 1
A1 L Karp
A1 J I Bryant
A1 G Tagatz
A1 E Giblett
A1 P J Fialkow
YR 1975
UL http://jmg.bmj.com/content/12/1/70.abstract
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.