A Case of Constitutional Interstitial Deletion of 5q

ABSTRACT

Constitutional interstitial deletions of 5q are rare conditions and phenotypic correlations are not well defined in the literature. We report a case of a male infant with constitutional interstitial deletion 5q15q22. The infant showed hypertelorism, cleft palate and bilateral undescended testis. He also had atrial septal defect and small patent ductus arteriosus, and showed no response in brain stem audoimetry. Our report gives weight to the previously reported cases that karyotype-phenotype correlation may be speculated in 5q deletion.