De novo deletion 12q: report of a patient with 12q24.31q24.33 deletion

Abstract

We report on a patient with de novo interstitial deletion of the long arm of chromosome 12: 46,XY,del(12)(q24.31q24.33). To our knowledge this is the first patient with this chromosomal abnormality reported. He was born with minor anomalies, ambiguous genitalia, tracheomalacia, and he was developmentally delayed at age 9 months. The phenotype associated with this deletion may be characteristic. However, because of the absence of reported cases of other patients with loss of this chromosomal region, we cannot delineate the specific phenotype further. Ambiguous genitalia or hypogonadism has been reported in other patients with chromosomal rearrangements involving 12q24.