Construction of Copy Number Variation Map Identifies Small Regions of Overlap and Candidate Genes for Atypical Female Genitalia Development

Copy number variations (CNVs) have been implicated in various conditions of differences sexual development (DSD). Generally, larger genomic aberrations are more often considered disease-causing or clinically relevant, but over time, smaller CNVs associated with forms DSD. The main objective this study is to identify small and the smallest regions overlap (SROs) patients atypical female genitalia (AFG) build a CNV map AFG. We queried DECIPHER database for recurrent duplications and/or deletions detected across genome AFG individuals. From these data, we constructed chromosome consisting SROs investigated such genes that may be genitalia. Our identified 180 unique (7.95 kb 45.34 Mb) distributed among 22 chromosomes. most were found chromosomes X, 17, 11, 22. None 3. SROs, as potential candidates. Although none currently AFG, literature review indicated almost half potentially involved function reproductive system, only one gene was disorder reported an individual patient ambiguous data regarding novel requires further functional investigation determine role candidate genitalia, paper should serve catalyst downstream molecular studies eventually affect genetic counseling, diagnosis, management DSD patients.