Precise breakpoint detection in a patient with 9p- syndrome.
autism
butterfly vertebrae
congenital sensorineural hearing impairment
hemivertebrae
profound global developmental delay
superior mesenteric artery aneurysm
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
06 2020
06 2020
Historique:
received:
21
02
2020
accepted:
27
04
2020
entrez:
14
6
2020
pubmed:
14
6
2020
medline:
29
5
2021
Statut:
epublish
Résumé
We present a case of 9p- syndrome with a complex chromosomal event originally characterized by the classical karyotype approach as 46,XX,der(9)t(9;13)(p23;q13). We used advanced technologies (Bionano Genomics genome imaging and 10× Genomics sequencing) to characterize the location of the translocation and accompanying deletion on Chromosome 9 and duplication on Chromosome 13 with single-nucleotide breakpoint resolution. The translocation breakpoint was at Chr 9:190938 and Chr 13:50850492, the deletion at Chr 9:1-190938, and the duplication at Chr 13:50850492-114364328. We identified genes in the deletion and duplication regions that are known to be associated with this patient's phenotype (e.g.,
Identifiants
pubmed: 32532883
pii: mcs.a005348
doi: 10.1101/mcs.a005348
pmc: PMC7304358
pii:
doi:
Types de publication
Case Reports
Journal Article
Meta-Analysis
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NIMH NIH HHS
ID : R00 MH117165
Pays : United States
Informations de copyright
© 2020 Ng et al.; Published by Cold Spring Harbor Laboratory Press.
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