Clinical and genetic study of three families with 15q11q13 duplications |
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| Affiliation: | 1. Department of Clinical Laboratory, Maternal and Child Health Hospital of Hubei Province, Wuhan, Hubei, China;2. School of Artificial Intelligence and Automation, Huazhong University of Science and Technology, Wuhan, Hubei, China |
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| Abstract: | ObjectiveTo report three families with chromosome 15q11q13 duplications.Case reportWe report the prenatal diagnosis and genetic counseling of three 15q11q13 duplications.ConclusionChromosomal 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. |
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| Keywords: | Chromosome karyotype Chromosomal microarray analysis (CMA) Noninvasive prenatal testing (NIPT) Chromosomal microdeletions/microduplications Prenatal diagnosis |
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