Genetic analysis of an adult with mosaicism of uniparental disomy 11p
10.3760/cma.j.issn.1003-9406.2019.12.017
- VernacularTitle: 一例11p嵌合单亲二倍体患者的遗传学分析
- Author:
Yalan XIN
1
;
Hui FANG
2
;
Penghui YUAN
2
;
Yushen JIANG
2
Author Information
1. Meishan Maternal and Child Health Care Hospital, Meishan, Sichuan 620010, China
2. Hangzhou Di’an Medical Laboratory Center, Hangzhou, Zhejiang 310030, China
- Publication Type:Clinical Trail
- Keywords:
Mosaic uniparental disomy;
11p15.5p12;
Genomic imprinting;
Ventricular septal defect;
Single nucleotide polymorphism array
- From:
Chinese Journal of Medical Genetics
2019;36(12):1219-1221
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical phenotype and genomic abnormality of an adult featuring congenital heart defect and multiple developmental disorders.
Methods:The patient was subjected to conventional G-banding chromosomal karyotyping and single nucleotide polymorphism microarray (SNP-array) analysis.
Results:The patient showed a normal karyotype, while SNP-array revealed a 42.7 Mb mosaic uniparental disomy (UPD) in the 11p15.5p12 region ([hg19] chr11: 491 333 - 43 189 376).
Conclusion:The mosaicism of UPD of 11p15.5p12 region probably underlies the congenital heart defect and developmental disorders in the patient.
