Pediatric Neurology Unit

some 9 in all 20 cells examined, consisting of a deletion of the short arm. A high-resolution study using methotrexate synchronization and Giemsa-Trypsin-Giemsa banding was used to determine the breakpoint at p12p13,3. Parental chromosomes were normal. Discussion We present a new case of proximal deletion of chromosome 9p. In parallel to the patient in our previous case, this patient demon-strated mild developmental delay, facial dysmorphic features, and ambiguous genitalia. In addition, the proband presented with craniosynostosis, microcephaly, partial absence of the corpus callosum, low stature, low body weight, behavioral problems (ADHD), and sexual precocity, none of which were described in the previous case. The distal deletion of chromosome 9p syndrome has been well described. Most patients have characteristic findings, includ