September 25th, 2023

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Prenatal Diagnosis and Genetic Counseling of a Maternally Inherited 16p13.11 Microdeletion with a Favorable Outcome A Case Report
Authors:  Jingjun Zhou, M.D., Xi Li, M.D., Chunmei Hu, M.D., and Qi Zhao, M.D.
BACKGROUND: Chromosome 16p13.11 microdeletion syndrome is a rare copy number variant that carries increased risks for complications in the neonatal period and throughout the life span.

CASE: A 38-year-old, gravida 1, para 0, woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. There was no family history of birth defects or genetic diseases. Cytogenetic analysis of the cultured amniocytes revealed a normal karyotype of 46,XX. Chromosomal microarray analysis detected a 2.0-Mb chromosomal microdeletion in the region of 16p13.11p12.3(arr 6p13.11p12.3(14892976-16858332)x1 [GRCh37 (hg19)]). At 40 weeks a healthy female neonate was delivered vaginally, and at 36 months she was developing normally, with an IQ of 112.

CONCLUSION: Chromosomal microdeletions and microduplications are difficult to detect by conventional cytogenetics. Following the use of molecular genetic techniques, including array-based methods, the number of reported cases has rapidly increased. 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, chromosome karyotype, prenatal diagnosis
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