Fraxa locus in fragile X diagnosis: Family studies, prenatal diagnosis, and diagnosis of sporadic cases of mental retardation
β Scribed by von Koskull, Harriet ;Gahmberg, Nina ;Salonen, Riitta ;Salo, Armi ;Peippo, Maarit
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 423 KB
- Volume
- 51
- Category
- Article
- ISSN
- 0148-7299
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## 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
X-linked spinal and bulbar muscular atrophy (SBMA) is a late-onset motor neuron disorder which is caused by an expansion of the trinucleotide repeat (CAG), in the first exon of the androgen receptor gene. Two cases of prenatal testing for the disease in a Greek family are reported. An affected male