Cytogenetic and array-CGH characterization of a complex de novo rearrangement involving duplication and deletion of 9p and clinical findings in a 4-month-old female

Abstract

Approximately 15 patients with partial trisomy 9p involving de novo duplications have been previously described. Here, we present clinical, cytogenetic, FISH and aCGH findings in a patient with a de novo complex rearrangement in the short arm of chromosome 9 involving an inverted duplication at 9p24-->p21.3 and a deletion at 9pter-->p24.2. FISH probes generated from BACs selected from the UCSC genome browser were utilized to verify this rearrangement. It is likely that some previously described duplications of 9p may also be products of complex chromosomal aberrations. This report in which FISH and aCGH were used to more comprehensively characterize the genomic rearrangement in a patient with clinical manifestations of 9p duplication syndrome underscores the importance of further characterizing cytogenetically detected rearrangements.

Fig. 1

Patient at 4 months of age. A Front view: note the large-appearing eyes, hypertelorism, bulbous nose, thin vermilion, small-appearing mouth and subtle micrognathia. B Clinodactyly of the 5th digit.

Fig. 2

Partial karyotype of the patient showing the normal (left) and the abnormal (right) chromosome 9. A GTG banding. B FISH with the RP11-399M15 probe (spectrum green) and the RP11-32D4 probe (spectrum orange). Note the duplication and reverse orientation of the hybridization signals on the abnormal chromosome 9. C FISH with the Tel9p probe (spectrum green) and the CEP9 probe (spectrum orange) demonstrating deletion on the abnormal chromosome 9.

Fig. 3

Oligonucleotide aCGH results of chromosome 9 in a patient with 9p duplication and deletion. The deletion is shown with red arrows on the upper side and duplication is shown with blue arrows on the lower side.