DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA

The study reported on a 20-year-old female exhibiting features of Turner syndrome, minor holoprosencephaly, and excessive hair growth, among other symptoms. Cytogenetic analysis revealed a pseudodicentric chromosome 14;18, and a genome-wide SNP array identified a terminal deletion and duplication on chromosome 18, as well as a duplication on chromosome 16. The findings highlighted the utility of microarray analysis in detecting cryptic chromosomal rearrangements in patients with intellectual disabilities and multiple congenital anomalies.