Introduction: The condition when the sex of the baby can’t be determined and there is variation of genitalia from normal is known as ambiguous genitalia. Consanguinity can be defined as blood relationship that exists among individuals that descend from a common ancestor. If two individuals who are in close blood relation get married there is high chance that any single copy of gene which is present in common ancestor gets doubled in the subsequent generation. A recessive gene may thus come to light for the first time in subsequent generation. The aim of the present study was to see the correlation of consanguinity with prevalence of chromosomal anomalies in patients of ambiguous genitalia.

Materials and Methods: Study was conducted in the cytogenetic laboratory of the Department of Anatomy, King George’s Medical University UP, Lucknow. The patients were screened in the Department of Paediatrics and Paediatric Surgery and blood samples were taken. Cytogenetic analysis was done.

Results: Consanguinity was traced in 4 (18.2%) cases, of whom 3 (75%) had chromosomal anomalies. Out of remaining 18 (81.2%) cases, chromosomal anomalies were seen in 4 (22.2%) cases.

Conclusions: The proportion of cases with anomalies was higher in those positive for consanguinity as compared to those without consanguinity.

Keywords : Consanguinity, Ambiguous genitalia, Chromosomal anomalies