Abstract
45,X/47,XYY mosaicism is a rare chromosomal disorder with clinical information limited to 11 postnatal cases in the literature and with uncertainty regarding prenatal prediction of phenotype and prognosis. We report on 7 new cases of 45,X/47,XYY mosaicism, three detected prenatally and 4 diagnosed postnatally. A clinical comparison of the cases of 45,X/47,XYY mosaicism is presented together with a literature review.
Original language | English (US) |
---|---|
Pages (from-to) | 42-47 |
Number of pages | 6 |
Journal | American Journal of Medical Genetics |
Volume | 39 |
Issue number | 1 |
DOIs | |
State | Published - Jan 1 1991 |
Keywords
- chromosomal disorder
- prenatal diagnosis
- sex chromosome mosaicism
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)