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, alongside intellectual disability. Cytogenetic analysis revealed a pseudodicentric 14;18 chromosome, 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 significance of microarray analysis in identifying cryptic chromosomal rearrangements in patients with intellectual disabilities and multiple congenital anomalies.