December 1st, 2023

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Prenatal Diagnosis and Genetic Counseling of a Paternally Inherited 15q11.2q13.1 Duplication with a Favorable Outcome A Case Report
Authors:  Hunjin Luo, M.D., Xi Li, M.D., Yu Zhou, M.D., and Fangfang Liu, M.D.
BACKGROUND: Chromosome 15q11–q13 duplications are associated with developmental delay, mental retardation, autism, and epilepsy. In most affected individuals the duplicated chromosome is maternally derived, whereas paternal inheritance is more often associated with a normal phenotype.

CASE: We report the prenatal diagnosis and genetic counseling of a paternally inherited 15q11.2q13.1 duplication with a favorable outcome. Ultrasound examination showed no dysmorphism or intrauterine growth restriction in the fetus.

CONCLUSION: A combination of prenatal ultrasound, karyotype analysis, chromosomal microarray analysis, and genetic counseling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications.
Keywords:  chromosomal microarray analysis, chromosomal microdeletions/microduplications, karyotype analysis, prenatal diagnosis
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