Molecular cytogenetic diagnosis of a case with ring chromosome 18 syndrome / 中华医学遗传学杂志

ABSTRACT

Objective@#To explore the genetic basis for a child with developmental delay and congenital syndactyly.@*Methods@#G-banding chromosomal karyotyping and chromosomal microarray analysis (CMA) were performed on peripheral blood sample from the child.@*Results@#The child was ascertained as 46, XY, r(18)[52]/45, XY, ? 18[3]. A 18q21.32-q23 deletion was identified by CMA with a size of 19.85 Mb, which has encompassed 99 genes including CTDP1, TXNL4A, TSHZ1, PIGN, RTTN, TNFRSF11A, KDSR and CYB5A.@*Conclusion@#Clinical phenotype of the patient with ring chromosome 18 is associated with the size of the euchromatin loss and involved genes. As a useful complement to conventional karyotyping, CMA has provided an powerful tool for delineating complex chromosomal aberrations.