Detection of novel duplication variant in ADAMTS13 gene using chromosomal microarray analysis.
BMJ Case Rep
; 17(6)2024 Jun 11.
Article
en En
| MEDLINE
| ID: mdl-38862189
ABSTRACT
We present a case of a child with congenital thrombotic thrombocytopenic purpura found to have a compound heterozygous variant in the ADAMTS13 gene with a novel variant resulting in a large duplication of exons 9-11 of ADAMTS13 This variant was identified through additional molecular testing via a chromosomal microarray analysis. To our knowledge, this assay had not previously been utilised to identify an ADAMTS13 variant and the additional testing was possible through the involvement of a genetic counsellor.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Púrpura Trombocitopénica Trombótica
/
Proteína ADAMTS13
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
BMJ Case Rep
Año:
2024
Tipo del documento:
Article
País de afiliación:
Estados Unidos