[Genetic analysis of an individual with a fragile site at 16q22].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(4): 380-382, 2021 Apr 10.
Article
in Zh
| MEDLINE
| ID: mdl-33834471
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosomes, Human, Pair 16
/
Genetic Testing
/
Chromosome Fragility
/
Chromosome Fragile Sites
Type of study:
Prognostic_studies
Limits:
Humans
Language:
Zh
Journal:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Journal subject:
GENETICA MEDICA
Year:
2021
Document type:
Article
Affiliation country:
China