Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases

Conclusion
MMDs are frequent in CA/ID and remain a strong challenge. Reanalysis of positive ES data appears essential when phenotypes are partially explained by the initial diagnosis or atypically enriched overtime. Up-to-date clinical data, clinical expertise from the referring physician, strong interactions between clinicians and biologists, and increasing gene discoveries and improved ES bioinformatics tools appear all the more fundamental to enhance chances of identifying MMDs. It is essential to provide appropriate patient care and genetic counselling.

Source: Journal of Medical Genetics - December 21, 2023 Category: Genetics & Stem Cells Authors: Racine, C., Denomme-Pichon, A.-S., Engel, C., Tran Mau-them, F., Bruel, A.-L., Vitobello, A., Safraou, H., Sorlin, A., Nambot, S., Delanne, J., Garde, A., Colin, E., Moutton, S., Thevenon, J., Jean-Marcais, N., Willems, M., Genevieve, D., Pinson, L., Perr Tags: Diagnostics Source Type: research