Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array-based comparative...

Mental retardation (MR) is one of the most common phenotypes in congenital disorders, but in many cases the pathogenesis remains unknown. Here, we report on a 5-year-old boy with mild developmental disability, cranial malformation, minor anomalies, and moderate MR. G-banded chromosome analysis revealed that he carried an apparent balanced translocation, t(1;9)(p34.2;p24). However, our array-based comparative genomic hybridization (CGH-array) analysis detected a cryptic genomic duplication and a deletion at the breakpoints. Further fluorescence in situ hybridization (FISH) showed that the duplication was approximately 7.9 Mb in size at 1p34.3-p33, and the deletion was 4 Mb at 9pter-p24. Although some features of the patient were consistent with those of monosomy 9p-syndrome, his features were not typical of cases of the syndrome, suggesting that the small deletion region involved in 9p may limit his phenotype. On the other hand, interstitial duplication at 1p34.3-p33 is very rare and his phenotype did not match with that in previous reports. CGH-array is a potentially useful technique for investigating cryptic copy-number alterations in cases of apparently balanced chromosome rearrangements in patients with unexpected clinical features.