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

We report on a patient with de novo interstitial deletion of the long arm o f chromosome 12:46,XY,de1(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 developmen tally 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 t he specific phenotype further. Ambiguous genitalia or hypogonadism has been reported in other patients with chromosomal rearrangements involving 12q24 , Am. J, Med, Genet, 84:116-119, 1999, (C) 1999 Wiley-Liss, Inc.