Molecular cytogenetic study of a case with ring chromosome 15.
10.3760/cma.j.cn511374-20200214-00080
- VernacularTitle:15号环状染色体患者的细胞分子遗传学研究
- Author:
Jianlin ZHANG
1
;
Yimei YANG
;
Junrong ZHANG
;
Shanshan WANG
;
Feng YAO
;
Yuquan ZHANG
;
Shenghua JIANG
Author Information
1. Department of Gynecology and Obstetrics, the Affiliated Hospital of Nantong University, Nantong, Jiangsu 226001, China. jshh-008@163.com.
- Publication Type:Journal Article
- MeSH:
Chromosome Deletion;
Cytogenetic Analysis;
Female;
Genetic Counseling;
Humans;
Karyotyping;
Phenotype;
Ring Chromosomes
- From:
Chinese Journal of Medical Genetics
2021;38(3):238-241
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a patient featuring developmental delay.
METHODS:The patient and her parents were subjected to G- and C-banded chromosomal karyotyping analysis. The proband was also analyzed by single nucleotide polymorphism microarray (SNP-array). The result was verified by using fluorescence quantitative PCR (qPCR).
RESULTS:The proband's karyotype was ascertained as 46,XX, r(15)(p11.2q26.3)[92]/45,XX,-15[9]/46,XX, dic r(15)(p11.2q26.3;p11.2q26.3)[4]. SNP-array revealed that she has carried a de novo deletion at 15q26.3 (98 957 555-102 429 040) spanning approximately 3.4 Mb, which encompassed the IGF1R gene. qPCR has confirmed haploinsufficiency of exons 3, 10 and 20 of the IGF1R gene. Both of her parents had a normal karyotype.
CONCLUSION:The abnormal phenotype of the proband may be attributed to the microdeletion at 15q26.3, in particular haploinsuffiency of the IGF1R gene and instability of the ring chromosome. Cytogenetic method combined with SNP-array and qPCR can efficiently delineate chromosomal aberrations and provide accurate information for clinical diagnosis and genetic counseling.
