Prenatal diagnosis of unique translocation t[7;15] [q11.23;q26.3] in a fetus

ABSTRACT

Translocation, as the name implies, is the movement of a chromosomal segment to a new location in the genome. Once a structural chromosome abnormality has been detected, prenatal diagnosis in subsequent pregnancies and termination of pregnancy in the case of an unbalanced fetal karyotype is recommended. A woman was referred at 18 weeks of gestation to the Medical Genetics Clinic for an amniocentesis because of advanced maternal age [35], triple test risks and recurrent abortions. Prenatal ultrasound was normal. The amniocentesis revealed a male karyotype with an apparently balanced translocation46, XY, t[7;15] [q11.23; q26.3]. To our knowlegde, this is the first case in the literature of prenatal diagnosis of the unique translocation t[7;15] [q11.23;q26.3] in a fetus.