Genetic analysis of an individual with a fragile site at 16q22.
10.3760/cma.j.cn511374-20200107-00013
- Author:
Minjie SHAO
1
;
Yun WANG
;
Chan TIAN
;
Liping JIAO
;
Ping LIU
Author Information
1. Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China. shaominjiebysy@163.com.
- Publication Type:Journal Article
- MeSH:
Chromosome Fragile Sites;
Chromosome Fragility;
Chromosomes, Human, Pair 16;
Genetic Testing;
Humans;
Karyotyping;
Mosaicism
- From:
Chinese Journal of Medical Genetics
2021;38(4):380-382
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze a patient with infertility and a fragile site found at 16q22 by using cytogenetic methods.
METHODS:Peripheral blood sample was taken from the patient and subjected to chromosomal karyotyping and single nucleotide polymorphism microarray (SNP-array) analysis.
RESULTS:The patient was found to be a mosaicism for a fragile site at 16q22, which has a variable morphology and cannot be induced by folic acid treatment. No abnormality was found by SNP-array analysis.
CONCLUSION:A rare fragile site, which can be induced without folic acid treatment, has been identified at 16q22. The strategy of assisted reproduction for such individuals is yet to be explored.
