Introduction: Trisomy 18 is a constitutional chromosomal disorder defined by the presence of a supernumerary chromosome 18. The diagnosis is suspected clinically and confirmed by cytogenetic analysis. Genetic counseling for patients' families is important. The objective of this study is to report our experience in Medical Genetics Department at the Mohammed VI University Hospital of Oujda in the diagnosis and genetic counseling of trisomy 18 through dysmorphological expertise and cytogenetic analysis.
Material and methods: We report a retrospective descriptive study over a period of four years (2018-2022) of nine patients with polymalformative syndrome suggestive of trisomy 18 who underwent cytogenetic analysis.
Results: The median age of patients at diagnosis was 2 days with a male predominance. The mean maternal age at birth of the patients in our series was 40 years. Consanguinity was found in only one patient. All patients had a typical phenotype of trisomy 18. The postnatal constitutional karyotype showed a homogeneous trisomy 18 in all patients. In our series, only one patient is still alive at the age of 7 months, the other 8 patients died with a median postnatal survival of 5 days.
Conclusion: We underline through this study, the contribution of the medical geneticist in the clinic and cytogenetic diagnostic approach of rare chromosomal affections, in order to provide an adequate genetic counseling to the families.
Keywords: dysmorphic syndrome; genetic counseling; karyotype; trisomy 18.