An unusual case of trisomy 8 mosaicism complicated by coexistence of phenylketonuria

Trisomy 8 syndrome, also known as " Warkany syndrome type 2 ", was first reported in 1971. Complete trisomy 8 are mostly aborted spontaneously in the first trimester. Trisomy 8 mosaicism (T8M), predominated in the current cases reported. It is a highly heterogeneous Chromosome disorder. We know little about its effects on fertility. In this case, a patient with T8M combined with phenylketonuria was diagnosed. She's mentally retarded. After evaluating the anatomy and function of the reproductive system, the patient conceived through preimplantation genetic testing-intracytoplasmic sperm injection-embryo transfer (PGT-ICSI-ET) and obtained a healthy fetus, which is the first report. The study focuses on the maintenance of fertility in patients with T8M, the effects of phenylketonuria and genetic counseling.