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

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.

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..

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.

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.