De Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype-Phenotype Correlation.
array-CGH
chromosome 6
cytogenetics
fluorescence in situ hybridization
Journal
Journal of pediatric genetics
ISSN: 2146-4596
Titre abrégé: J Pediatr Genet
Pays: Germany
ID NLM: 101589859
Informations de publication
Date de publication:
Mar 2020
Mar 2020
Historique:
received:
24
04
2019
accepted:
28
06
2019
entrez:
25
1
2020
pubmed:
25
1
2020
medline:
25
1
2020
Statut:
ppublish
Résumé
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).
Identifiants
pubmed: 31976141
doi: 10.1055/s-0039-1694703
pii: 1900032
pmc: PMC6976321
doi:
Types de publication
Case Reports
Langues
eng
Pagination
32-39Informations de copyright
© Thieme Medical Publishers.
Déclaration de conflit d'intérêts
Conflict of Interest None declared.
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