Recurrent distal 16q duplication and terminal 22q deletion: prenatal diagnosis and genetic counseling.

摘要

A 36-year-old woman, gravida 4, para 0, was referred for amniocentesis at 18 gestational weeks because of advanced maternal age and an autosomal reciprocal translocation in her second spouse. This was the woman's fourth pregnancy, and she had experienced two preterm deliveries with neonatal death during her previous marriage and one spontaneous abortion following a relationship with her current spouse. Nine years before, the ex-wife of the woman's current spouce gave birth to a growth-restricted malformed baby at term with a karyotype of 46,XX,der(22)t(16;22)(q12.1 ;q13.3) and an unbalanced reciprocal translocation between 16q and 22q [1 ].