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

Clin Chim Acta. 2024 Feb 8;555:117794. doi: 10.1016/j.cca.2024.117794. Online ahead of print.ABSTRACTTrisomy 8 syndrome, also known as " Warkany syndrome type 2 ", was first reported in 1971. Complete trisomy 8 are mostly aborted spontaneouslyinthe first trimester. Trisomy 8 mosaicism (T8M), predominated in the current cases reported. Itisahighlyheterogeneous 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 preimplantationgenetictesting-intracytoplasmicsperminjection-embryotransfer (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.PMID:38341017 | DOI:10.1016/j.cca.2024.117794
Source: International Journal of Clinical Chemistry - Category: Chemistry Authors: Source Type: research