[Analysis of clinical and genetic characteristics of a child with ring chromosome 4 syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(8): 843-846, 2020 Aug 10.
Article
in Zh
| MEDLINE
| ID: mdl-32761591
ABSTRACT
OBJECTIVE:
To explore the genetic basis for a child featuring short stature.METHODS:
G-banded karyotyping, chromosomal microarray analysis (CMA) and high-throughput sequencing were carried out on peripheral blood sample from the child.RESULTS:
The karyotype of the child was ascertained as 45,XY,-4[3]/46,XY,r(4)(p16q35)[84]/47,XY,-4,r(4)(p16q25)*2[7]/48,XY,-4,r(4)(p16q35)*3[1]/46,XY,dic r(4;4)(p16q35;p16q35)[2]/46,XY,add(4)(p16)[3]. A 647 kb deletion at 4p16.3 was identified by CMA, which encompassed 6 OMIM genes including ZNF141, PIGG, PDE6B, ATP5I, PCGF3 and MYL5. High-throughput sequencing has identified no pathogenic/likely pathogenic variants consistent with the clinical symptoms.CONCLUSION:
A rare ring chromosome 4 syndrome was identified by combined chromosomal karyotyping, CMA and high-throughput sequencing. Conventional cytogenetic analysis and genetic testing in combine have enabled the diagnosis in this case.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosome Disorders
/
Karyotyping
Type of study:
Prognostic_studies
Limits:
Child
/
Humans
Language:
Zh
Journal:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Journal subject:
GENETICA MEDICA
Year:
2020
Document type:
Article
Affiliation country:
China
Publication country:
CHINA
/
CN
/
REPUBLIC OF CHINA