Copy number variations associated with fetal congenital kidney malformations

• Published in: Molecular cytogenetics Vol. 13; no. 1; p. 11
• Main Authors: Cai, Meiying, Lin, Na, Su, Linjuan, Wu, Xiaoqing, Xie, Xiaorui, Li, Ying, Chen, Xuemei, Lin, Yuan, Huang, Hailong, Xu, Liangpu
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 24.03.2020; BioMed Central; BMC
• Subjects: Amniocentesis; Analysis; Biotechnology industries; Birth defects; Chromosomal microarray analysis; Congenital defects; Congenital diseases; Copy number; Copy-number variations; Criminal investigation; Defects; Development and progression; DNA microarrays; EDTA; Etiology; Etiology (Medicine); Fetuses; Fluorescence; Fluorescence in situ hybridization; Genes; Genetic counseling; Genetic disorders; Genetic polymorphisms; High definition television; Kidney diseases; Kidneys; Medical genetics; Parents & parenting; Phenotypes; Polymorphism; Pregnancy; Pregnant women; Prenatal diagnosis; Renal hypodysplasia; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Statistical analysis; Studies; Surveys; Ultrasonic imaging; Urinary tract; Urogenital system; United States; Renal hypodysplasia; Chromosomal microarray analysis; Etiology; Copy-number variations

Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20-30% of all congenital malformations. Within the CAKUT phenotypic spectrum, renal hypodysplasia (RHD) is particularly severe. This study aimed to evaluate the applicability of single-nucleotide polymorphism (SNP) array test in...