First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient.
15q13.3 syndrome
And learning disability
CHRNA7
Cognitive impairment
Consecutive deletions
High IQ
Hyperactivity
Journal
Molecular cytogenetics
ISSN: 1755-8166
Titre abrégé: Mol Cytogenet
Pays: England
ID NLM: 101317942
Informations de publication
Date de publication:
2019
2019
Historique:
received:
13
02
2019
accepted:
01
05
2019
entrez:
28
5
2019
pubmed:
28
5
2019
medline:
28
5
2019
Statut:
epublish
Résumé
15q13.3 syndrome is associated with a wide spectrum of neurological disorders. Among a cohort of 150 neurodevelopmental cases, we identified two patients with two close proximity interstitial hemizygous deletions on chromosome 15q13. Using high-density microarrays, we characterized these deletions and their approximate breakpoints. The second deletion in both patients overlaps in a small area containing
Identifiants
pubmed: 31131027
doi: 10.1186/s13039-019-0432-6
pii: 432
pmc: PMC6525444
doi:
Types de publication
Journal Article
Langues
eng
Pagination
21Déclaration de conflit d'intérêts
Competing interestsThe authors declare that they have no competing interests.
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