Clinical and genetic study of three families with 15q11q13 duplications

Abstract

Objective: To report three families with chromosome 15q11q13 duplications. Case report: We report the prenatal diagnosis and genetic counseling of three 15q11q13 duplications. Conclusion: Chromosomal microdeletions and microduplications are difficult to be detected by conventional cytogenetics. With molecular genetic techniques including array-based methods, the number of reported cases has rapidly increased. An integration of prenatal ultrasound, NIPT, karyotype analysis, CMA and genetic counseling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications.

Keywords

• Chromosome karyotype
• Chromosomal microarray analysis (CMA)
• Noninvasive prenatal testing (NIPT)
• Chromosomal microdeletions/microduplications
• Prenatal diagnosis