Targeted next-generation sequencing identifies the disruption of the
Balanced rearrangements
Cardiac disorder
Chromosomal breakpoints
Genotype-phenotype
Haploinsufficiency
Next-generation sequencing
Phelan-McDermid syndrome
RYR2
Reciprocal translocation
SHANK3
Journal
Molecular cytogenetics
ISSN: 1755-8166
Titre abrégé: Mol Cytogenet
Pays: England
ID NLM: 101317942
Informations de publication
Date de publication:
2020
2020
Historique:
received:
07
04
2020
accepted:
26
05
2020
entrez:
16
6
2020
pubmed:
17
6
2020
medline:
17
6
2020
Statut:
epublish
Résumé
It has been known for more than 30 years that balanced translocations, especially if de novo, can associate with congenital malformations and / or neurodevelopmental disorders, following the disruption of a disease gene or its cis-regulatory elements at one or both breakpoints. We describe a 10-year-old girl with a non-specific neurodevelopmental disorder characterized by moderate intellectual disability (ID), gross motor clumsiness, social and communication deficits. She carries a de novo reciprocal translocation between chromosomes 1q43 and 22q13.3, the latter suggesting the involvement of Although the interruption of
Sections du résumé
BACKGROUND
BACKGROUND
It has been known for more than 30 years that balanced translocations, especially if de novo, can associate with congenital malformations and / or neurodevelopmental disorders, following the disruption of a disease gene or its cis-regulatory elements at one or both breakpoints.
CASE PRESENTATION
METHODS
We describe a 10-year-old girl with a non-specific neurodevelopmental disorder characterized by moderate intellectual disability (ID), gross motor clumsiness, social and communication deficits. She carries a de novo reciprocal translocation between chromosomes 1q43 and 22q13.3, the latter suggesting the involvement of
CONCLUSIONS
CONCLUSIONS
Although the interruption of
Identifiants
pubmed: 32536973
doi: 10.1186/s13039-020-00490-6
pii: 490
pmc: PMC7291734
doi:
Types de publication
Case Reports
Langues
eng
Pagination
22Informations de copyright
© The Author(s) 2020.
Déclaration de conflit d'intérêts
Competing interestsThe authors declare no conflicts of interest.
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