Objective: To report a rare 17q12 microduplication family.
Case Report: A 29-year-old woman (gravida 1, para 0) underwent amniocentesis at 21 weeks' gestation because of double bubble sign and polyhydramnios of the fetus on prenatal ultrasound. Chromosomal microarray analysis (CMA) from this family revealed a 1.78-Mb microduplication on chromosome 17q12 of the fetal, spanning from position 34,460,444 to 36,243,365 (GRCh37). Trio whole-exome sequencing (WES) showed 17q12 microduplication in the fetal and the mother. After genetic counselling and being informed of the unfavourable prognosis, the parents decided to continue the pregnancy.
Conclusion: We provide a detailed description of the phenotype in a rare family with 17q12 microduplication. Combination of karyotype analysis, CMA, WES, prenatal ultrasound and genetic counseling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications.
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Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microduplication family.
Eur J Obstet Gynecol Reprod Biol
January 2025
Department of Clinical Laboratory, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai, PR China. Electronic address:
Objective: To report a rare 17q12 microduplication family.
Case Report: A 29-year-old woman (gravida 1, para 0) underwent amniocentesis at 21 weeks' gestation because of double bubble sign and polyhydramnios of the fetus on prenatal ultrasound. Chromosomal microarray analysis (CMA) from this family revealed a 1.
Prenatal diagnosis of 17q12 copy number variants in fetuses via chromosomal microarray analysis - A retrospective cohort study and literature review.
Heliyon
September 2024
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510620, Guangdong, China.
Article Synopsis
- This study examines the effects of 17q12 copy number variants (CNVs) in fetuses, focusing on their physical characteristics during pregnancy.
- The analysis included 48 fetuses with 17q12 microdeletions or microduplications, revealing that 94.6% of fetuses with deletions showed significant kidney issues, while those with duplications often had duodenal obstructions and cardiac abnormalities.
- Despite the complexity and variability of 17q12 CNVs, the research suggests that the immediate outlook for affected fetuses is generally positive.
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Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, Fujian Medical University, National Key Obstetric Clinical Specialty Construction Institution of China, Fuzhou, China.
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View Article and Find Full Text PDFNoninvasive prenatal testing for the detection of fetal chromosome 17 microduplication: clinical implications and findings.
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View Article and Find Full Text PDFBackground: Copy number variants (CNVs) contribute significantly to normal and pathogenic genomic variations. Chromosome 17q12 microdeletion is implicated in structural or functional kidney and urethral abnormalities, MODY5 (type 5 diabetes), and neurodevelopmental or neuropsychiatric disorders. Conversely, microduplication of 17q12, though rare, elevates the risk of epilepsy and mental retardation.
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