Genetic analysis of a case with mosaicism of a small supernumerary marker chromosome derived from idic(15).
10.3760/cma.j.cn511374-20200626-00475
- VernacularTitle:一例idic(15)来源的嵌合型标记染色体的遗传学分析
- Author:
Minjie SHAO
1
,
2
,
3
;
Yun WANG
;
Nan ZHAO
;
Ping LIU
Author Information
1. Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, National Clinical Research Center for Obstetrics and Gynecology
2. Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education
3. Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China. pingliu7703@sina.com.
- Publication Type:Journal Article
- MeSH:
Chromosome Disorders;
Chromosomes, Human, Pair 15;
Comparative Genomic Hybridization;
Humans;
In Situ Hybridization, Fluorescence;
Karyotype;
Mosaicism
- From:
Chinese Journal of Medical Genetics
2022;39(1):85-88
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To determine the origin of a mosaicism small supernumerary marker chromosome (sSMC) by cytogenetic and molecular analysis.
METHODS:Karyotype analysis, fluorescence in situ hybridization (FISH) and SNP-array were carried out.
RESULTS:The karyotype of the patient was mos47,XX,+mar[45]/48,XX,+2mar[3]/46,XX[52]; the SNP-array result was arr[hg19]15q11.1q11.2 (20 161 372-24 314 675)×3, and the repeat fragment was about 4.15 Mb. FISH showed that approximately 50% of the cells have contained a sSMC with double D15Z1 probe site segments derived from abnormal idic(15). This sSMC did not contain SNRPN and PML probe fragments of Prader-Willi syndrome/Angelman syndrome.
CONCLUSION:When the patient's karyotype and phenotype are inconsistent, cytogenetic and molecular biology technologies should be combined to clarify the karyotype and gene location, so as to provide more accurate genetic consultation for the follow-up treatments.
