J Pediatr Genet 2020; 09(01): 032-039
DOI: 10.1055/s-0039-1694703
Case Report
Georg Thieme Verlag KG Stuttgart · New York

De Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype–Phenotype Correlation

Emine Ikbal Atli
1  Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey
,
Hakan Gurkan
1  Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey
,
Engin Atli
1  Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey
,
Ulfet Vatansever
2  Department of Pediatrics, Trakya University Faculty of Medicine, Edirne, Turkey
,
Betul Acunas
2  Department of Pediatrics, Trakya University Faculty of Medicine, Edirne, Turkey
,
Cisem Mail
1  Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey
› Author Affiliations
Funding None.
Further Information

Publication History

24 April 2019

28 June 2019

Publication Date:
12 August 2019 (online)

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).

Consent for Publication

Written informed consent has been obtained from the parents of the infant to have the case details and accompanying images published.


Ethics Approval

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.


Authors' Contributions

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.