8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.
Adolescent
Adult
Autism Spectrum Disorder
/ genetics
Child
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 8
/ genetics
Cognitive Dysfunction
/ genetics
Developmental Disabilities
/ genetics
Female
Humans
Infant
Intellectual Disability
/ genetics
Male
Microcephaly
/ genetics
Phenotype
Sequence Deletion
/ genetics
8p23.2-pter microdeletion
8p23.3
ARGHEF10
DLGAP2
behavior disorder
candidate region
chromosomal microarray analysis (CMA)
critical microdeletion region (CR)
developmental delay
small deletions
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
27 04 2021
27 04 2021
Historique:
received:
18
03
2021
revised:
21
04
2021
accepted:
22
04
2021
entrez:
30
4
2021
pubmed:
1
5
2021
medline:
24
8
2021
Statut:
epublish
Résumé
To date only five patients with 8p23.2-pter microdeletions manifesting a mild-to-moderate cognitive impairment and/or developmental delay, dysmorphisms and neurobehavioral issues were reported. The smallest microdeletion described by Wu in 2010 suggested a critical region (CR) of 2.1 Mb including several genes, out of which
Identifiants
pubmed: 33925474
pii: genes12050652
doi: 10.3390/genes12050652
pmc: PMC8146486
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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