Abstract
Familial mosaicism has rarely been reported. Its recognition poses problems in prognosis, especially prenatally.
A 36-year-old white woman, gravida 1, following Clomid stimulation had an amniocentesis at 19 weeks. Of 65 spreads, 82% were 45,X and 18% 46,XX. A second amniocentesis 3 weeks later showed 73% 45,X and 27% 46,XX in 37 spreads. Thorough genetic counseling with discussion of the Turner mosaic phenotype preceded a dedision to continue the pregnancy. At term the female infant had normal mensurations, no stigmata of the 45,X syndrome, and blood study showed 38% 45,X, 60% 46,XX and 2% 47,XXX in 40 spreads.
The phenotypically normal mother had blood studies 2 months apart: (1) N = 41 with 10% 45,X, 83% 46,XX, and 7% 47,XXX; (2) N = 100 with 5% 45,X, 94% 46,XX, and 1% 48,XXXX. The phenotypically normal maternal grandmother, 74, showed 5% 45,X, 90% 46,XX, and 5% 47,XXX in 80 spreads, and the phenotypically normal maternal uncle, 39, showed 2.5% 45,Y, and 97.5% 46,XY in 40 spreads.
Thus, 3 generations of females showed sex chromosomal mosaicism. The possibility of familial mosaicism reaches critical importance in interpreting prenatal mosaicism.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Juberg, R., Holliday, D. & Hennessy, V. 114: FAMILIAL SEX CHROMOSOMAL MOSAICISM. Pediatr Res 24, 279 (1988). https://doi.org/10.1203/00006450-198808000-00139
Issue Date:
DOI: https://doi.org/10.1203/00006450-198808000-00139