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Prenatal findings of 2q13 Duplication and Deletion: Further Evidence for Lack of Phenotypic-Genotype Correlation

Author(s): Yong Dai, Donge Tang, and Wenlong Hu

Objective: In previous studies, 2q13 CNV was associated with various diseases, with a lack of consensus. This study aimed to analyze the prenatal diagnosis and clinical presentation of fetuses with different deletions or duplications of 2q13.

Materials and methods: Detailed prenatal screening and laboratory examinations, including prenatal ultrasound diagnosis and amniocentesis, were performed, and genetic analysis was performed using multiplex ligation-dependent probe amplification (MLPA) and chromosome microarray analysis (CMA).

Results: CMA analysis showed that four fetuses had deletion in the proximal region of 2q13, one had duplication, and one had duplication in the distal region of 2q13. Four fetuses had inherited copy number variation (CNV) from their parents; however, they had variable outcomes.

Conclusion: Individuals with the same CNV of 2q13 may have different phenotypes or are unaffected; multiple individuals with the same deletion or duplication need to be evaluated to capture feature sets associated with that CNV. Genetic counseling and follow-up to the fetus’s mother and family are essential. Genomic diseases’ characteristics should be explained in detail when providing prenatal genetic counseling to mothers and their families.

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