Reply to Dr. Qumsiyeh and Dr. Peppers

Abstract

Thank you for the opportunity to comment on the letter from Dr. Qumsiyeh and Dr. Peppers. The 1;8 unbalanced translocation described in our report was unequivocally diagnosed by conventional cytogenetic studies prior to our analysis with whole chromosome paints (WCP). Examination of at least 50 metaphases with band levels of 550 or more failed to detect any chromosome 1 material on the deleted chromosome 8. Although the partial karyotype in our report is a little dark, it is obvious that the translocation is not balanced. The clinical findings in our patient alone support a diagnosis of 1q42.3 deletion syndrome. 6 refs.