Prenatal Diagnosis and Molecular Cytogenetic Analyses of a Rare 17q12 Microdeletion and Microduplication in a Family with a Normal Phenotype

CONCLUSIONS: This research provides a comprehensive description of the phenotype in a rare family featuring 17q12 microdeletion and microduplication. Employing a combination of karyotype analysis, CMA, WES, prenatal ultrasound, and genetic counseling proves helpful in the prenatal diagnosis of chromosomal microdeletions/microduplications.PMID:38330560

Source: Alternative Therapies in Health and Medicine - February 8, 2024 Category: Complementary Medicine Authors: Mingxia Xie Dongling Tang Fenglian Guo Source Type: research