PRENATAL-DIAGNOSIS OF X-LINKED SPINAL AND BULBAR MUSCULAR-ATROPHY IN A GREEK FAMILY

X-linked spinal and bulbar muscular atrophy (SBMA) is a late-onset mot or neuron disorder which is caused by an expansion of the trinucleotid e repeat (CAG)(n) in the first exon of the androgen receptor gene. Two cases of prenatal testing for the disease in a Greek family are repor ted. An affected male died in his late 50s of this disorder and his 30 -year-old daughter (an obligate carrier) asked for prenatal testing fo r SBMA. DNA analysis revealed that she indeed carried an expanded alle le of 40 repeats, as well as a normal size allele of 24 repeats. Prena tal diagnosis of SBMA. was performed when, on two successive pregnanci es, two male fetuses with the expanded (CAG)(n) allele were found.