Unbalanced Translocation in a Phenotypically Normal Male Patient Detected by Karyotyping and Array-comparative Genomic Hybridization

Background: nbalanced translocations can cause developmental delay, intellectual disability, growth problems, dysmorphic features, and congenital anomalies Unbalanced chromosome rearrangements that are cytogenetically visible account for ~3% of all recognized chromosome abnormalities. A lot of unbalanced translocations have been reported.

Objective: Here, we present an individual who has an unbalanced translocation caused by deletion of the terminal region of chromosome 5p encompassing 170 kb coupled with a 11.4 Mb duplication of the terminal region of chromosome 18q..

Case Presentatioin: We report the first case of unbalanced translocation in a phenotypically normal male after performing clinical phenotyping, cytogenetic analyses and then array-comparative genomic hybridization after detection of unbalanced translocation in his fetus. Conventional G-banded karyotyping showed additional chromatin of unknown origin on the long arm of chromosome 5: 46,XX,add(5)(p15.3). The microarray result confirmed an unbalanced translocation with the loss of ~170kb of chromosome 5p and duplication of 11.4Mb of the long arm of chromosome 18 (arr[GRCh37]5p15.33(22149_192836)x1, 18q22.1q23(66590438_78012829)x3 of a normal adult.

Conclusion: This is the first time we found the unbalanced translocation in a totally healthy man to our knowledge. Therefore, the karyotypes of the parents should be indicated whenever the unbalanced translocation detected in a fetus to have more data for prognosis.