Clinical phenotype and genetic analysis of a child with 3p26.3p25.3 deletion / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child with facial dysmorphism and multiple malformations.@*METHODS@#The child, born at 34+6 weeks' gestation due to premature rupture of amniotic membrane, dichorionic diamniotic twinning and gestational diabetes, was subjected to chromosomal karyotyping analysis and copy number variations sequencing (CNV-seq).@*RESULTS@#The child was found to have facial dysmorphism, hypospadia, cryptorchidism and hypotonia. He was found to have a 46,XY,del(3)(p26) karyotype in addition with a 9.80 Mb deletion (chr3 60 000-9 860 000) encompassing 33 protein coding genes.@*CONCLUSION@#The 3p26.3p25.3 deletion probably underlay the multiple malformations in this child. Continuous follow-up is required to improve his quality of life.