Abstract
Duplications of 6q and deletions of 6p have been reported in more than 30 cases of
live born infants and given rise to widespread abnormalities recognizable as a specific
clinical syndrome. Different phenotypes have been described with variable clinical
signs. Most cases involve the coexistence of unbalanced translocations affecting one
or the other of the chromosomes. However, duplication of both chromosome 6q and deletion
of 6p regions have been reported in only a few cases. Here, we report the first duplication
of chromosome band 6q23.3–q27 with deletion of 6p25.3. This is the first case in the
literature involving changes to these specific chromosomal regions; a medium size
duplication of the distal long arm and smaller deletion of the terminal short arm
of chromosome 6. In the literature, there are no other cases where these two specific
chromosomal aberrations are observed together. Conventional chromosome analysis was
performed to investigate the patient. Chromosome structure was identified using fluorescence
in situ hybridization for subtelomeric regions of chromosome 6 and array comparative
genomic hybridization analysis (array-CGH).
Keywords
cytogenetics - fluorescence in situ hybridization - chromosome 6 - array-CGH
