Genetic analysis of an infant with duplication of 22q12.1-q13.3 / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the genetic basis for an infant with multiple malformations including congenital heart disease and cleft palate.@*METHODS@#The child and his parents were subjected to conventional chromosomal karyotyping and low-coverage massively parallel copy number variation sequencing (CNV-seq) analysis.@*RESULTS@#The infant was found to have a 46,X,add(Y)(q11.23) karyotype, and his CNV-seq result was seq [hg19] 22q12.1q13.3 (29 520 001-51 180 000)× 3. His parents were found to be normal by both methods.@*CONCLUSION@#The additional chromosomal material found on Yq, verified as duplication of 22q12.1-q13.3, may account for the abnormal phenotype in this infant. CNV-seq has provided a useful complement for the diagnosis and more accurate information for genetic counseling.