Clinical and cytogenetic findings in X0/+18 mosaicism
| Reference | Clinical findings | Lymphocyte chromosomes | Fibroblast chromosomes | ||||||
|---|---|---|---|---|---|---|---|---|---|
| X0 | +18 | X0 | +18 | ||||||
| 4 | Short neck with pterigium, shield chest, streak gonads, normal intelligence | 56% | 37% | 93% | 7% | ||||
| 5 | Growth retardation, pectus carinatum, cubitus valgus, buphthalmos, mesocephaly, severe psychomotor delay, ovarian agenesis | 53% | 47% | 100% | — | ||||
| 3 | Short stature, facial asymmetry, normal intelligence (gonadal status unknown) | 43% | 57% | 83% | 17% | ||||
| Present case | Secondary amenhorroea, facial asymmetry, mild dysmorphism, mild mental retardation, short stature | 25% | 75% | 77% | 23% | ||||