The fragile X syndrome: Variability of expression in carrier females
- 1 May 1988
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 30 (1-2) , 227-230
- https://doi.org/10.1002/ajmg.1320300122
Abstract
The fra(X) expression in heterozygotes varies considerably from family to family. In family D23, 5 carriers express the fra(X) regardless of age. DNA studies using 3 markers were inconclusive as to whether cytogenetic testing is more reliable in this family than in others. III‐2 and III‐5 are the critical individuals in the pedigree; further study with closer probes should resolve this question.Keywords
This publication has 2 references indexed in Scilit:
- Further evidence for genetic heterogeneity in the fragile X syndromeHuman Genetics, 1987
- The marker (X) syndrome: a cytogenetic and genetic analysisAnnals of Human Genetics, 1984