Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study - Zhuang, Jianlong; Wei, Qiulan; Jiang, Yuying; Zeng, Shuhong; Lou, Haijuan; Zhang, Na; Chen, Chunnuan (BMC pregnancy and childbirth, 2024)
Keywords: 4q35.2 microduplication; Adult; Amniotic fluid; Asian People - genetics; Calcification; Child development; China; Chromosomal microarray analysis; Chromosome Duplication; Chromosomes; Chromosomes, Human, Pair 4 - genetics; Cytogenetic Analysis; Data analysis; East Asian People; Female; Fetuses; Genomes; Gynecology; Hospitals; Humans; Hydronephrosis; Intellectual disabilities; Lowe syndrome; Male; Maternal and Child Health; Medicine; Medicine & Public Health; Patients; Pediatrics; Phenotypical diversity; Pregnancy; Prenatal Diagnosis; Proteins; Reproductive Medicine; Retrospective Studies; Software; Ultrasonic imaging; Whole exome sequencing; China; United States--US; Chromosomal microarray analysis; Lowe syndrome; 4q35.2 microduplication; Phenotypical diversity; Whole exome sequencing