## Abstract Since 1985, we have provided coordinated DNAβbased and cytogenetic prenatal analysis for couples at risk for offspring afflicted with the fragile X [fra(X)] syndrome. To date, 40 pregnancies have been studied (22 males, 18 females). There were 5 males and 3 females identified to be at h
Cytogenetic diagnosis of the fragile X syndrome: Efficiency, utilization, and trends
β Scribed by Shapiro, Lawrence R. ;Wilmot, Patrick L. ;Shapiro, Deborah A. ;Pettersen, Isabel M. ;Casamassima, Anthony C.
- Publisher
- John Wiley and Sons
- Year
- 1991
- Tongue
- English
- Weight
- 196 KB
- Volume
- 38
- Category
- Article
- ISSN
- 0148-7299
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In this paper we report on a third patient with Klinefelter syndrome and fragile X. In the Leuven experience the simultaneous occurrence of both conditions is 1:155 (3 fra(X) positive Klinefelter patients in a total number of 465 fra(X) positive males), a concurrence much higher than expected by cha
The publication of 2 studies in this issueoftheJourna1 [Fisch, 1992; Reiss and Freund, 19921 on the relationship between the fragile X [fra(X)] and autistic syndromes provides an appropriate time to review the continuing debate about whether or not there is a relationshipbetween these 2 syndromes.
The results of 30 prenatal diagnoses for fragile X syndrome are reported. Amniotic fluid cells were examined in 1 case, fetal blood in 4, and chorionic villi samples in the others. Of the 5 fetuses analyzed by cytogenetic methods, 1 had showed 4% of fraXq27.3 expression sites and the pregnancy was t