Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing

Abstract To explore the genetic cause of a four-generation severe intellectual disability in a Chinese family using nanopore sequencing and to provide genetic counseling and reproductive guidance for family members. Multiple genetic analyses of the proband and family members were performed, includin...

תיאור מלא

מידע ביבליוגרפי

Principais autores:	Xingwu Wu, Qiang Xu, Ge Chen, Jialyv Huang, Yanying Zhong, Lifeng Tian, Qiongfang Wu, Jia Chen
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Nature Portfolio 2025-01-01
סדרה:	Scientific Reports
נושאים:	Phelan-McDermid syndrome Nanopore sequencing Cryptic balanced translocation 22q13.33 deletion
גישה מקוונת:	https://doi.org/10.1038/s41598-025-87083-8
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!