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.

Human papillomavirus (HPV) type 6 and type 16 DNA sequence variants were found by partially sequencing the L1 and E7 open reading frames, using templates generated with the polymerase chain reaction. Identical variants were found in patients from widely separated locations, such as the United States, the Philippines, and India. The same sequence variants of HPV 16 were found in women with invasive cervical carcinoma and in women with no evidence of disease. Variation in the predicted amino acid sequences of the HPV 16 L1 and E7 proteins was found. A single nucleotide change at position 6433 was found in about 50% of the HPV 16 DNAs, resulting in a change in predicted amino acid sequence from threonine to alanine at the equivalent position in the L1 protein. Predicted amino acid changes were found in the HPV 16 E7 proteins at amino acid positions 28, 29, and 47. Variation at these positions could affect known properties of the E7 protein, including binding to the retinoblastoma protein.