De Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype–Phenotype CorrelationFunding None.
24 April 2019
28 June 2019
12 August 2019 (online)
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).
Consent for Publication
Written informed consent has been obtained from the parents of the infant to have the case details and accompanying images published.
The study was approved by Trakya University, Faculty of Medicine, Scientific Research Ethics Committee.
Availability of Data and Supporting Materials
All data used in this study are available from the author.
E.A. performed the molecular cytogenetic studies; H.G. conceived of the study; U.V. made the examination of the patient; B.A. made the examination of the patient and family; C.M. performed the cytogenetic studies; and E.I.A. conceived of the study, participated in its design, and drafted the manuscript.
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