We report on the first case of trisomy 3 detected in the lymphocytes of a live-born infant who died at the age of 5 months. A normal 46,XX karyotype was found in skin fibroblast cultures, which could account for the child's viability and lack of gross phenotypic malformations.
The fetal karyotype was determined in 42 out of 45 cases from fetal blood obtained by fetoscopy for prenatal diagnosis of beta-thalassemia. The procedure described is quick and reliable and it is recommended for women over 35 years of age undergoing prenatal diagnosis for haemoglobinopathies.
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