Clinical and genetic analysis of a rare case with mosaic partial trisomy 5p syndrome.
10.3760/cma.j.cn511374-20190924-00492
- Author:
Tianrong HE
1
;
Yunqiang LIU
;
Yuan YANG
Author Information
1. Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China. yangyuan@scu.edu.cn.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(9):1032-1035
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To determine the size and origin of a small supernumerary marker chromosome (sSMC) identified in a patient featuring developmental retardation.
METHODS:High-throughput sequencing for copy number variation (CNV-seq) was carried out to delineate the sSMC identified upon G-banded chromosomal karyotyping. The genotype-phenotype correlation was explored by database retrieval and literature analysis.
RESULTS:The patient was found to have a karyotype of mos 47,XX,+mar[36]/46,XX[23]. CNV-seq has identified a 18 Mb duplication at 5p14.1-p12 (hg19: 27,399,261-46,083,784)x2.6 with a mosaicism rate of approximately 60%.
CONCLUSION:Patients with mosaic partial trisomy 5p may have extensive clinical manifestations, and the ratio of trisomy 5p cells is correlated with clinical severity of this syndrome.
