Molecular cytogenetic diagnosis of a case with ring chromosome 18 syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1010-1014, 2019.
Article
in Zh
| WPRIM
| ID: wpr-776755
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child with developmental delay and congenital syndactyly.@*METHODS@#G-banding chromosomal karyotyping and chromosomal microarray analysis (CMA) were performed on peripheral blood sample from the child.@*RESULTS@#The child was ascertained as 46, XY, r(18)[52]/45,XY,?18[3]. A 18q21.32-q23 deletion was identified by CMA with a size of 19.85 Mb, which has encompassed 99 genes including CTDP1, TXNL4A, TSHZ1, PIGN, RTTN, TNFRSF11A, KDSR and CYB5A.@*CONCLUSION@#Clinical phenotype of the patient with ring chromosome 18 is associated with the size of the euchromatin loss and involved genes. As a useful complement to conventional karyotyping, CMA has provided an powerful tool for delineating complex chromosomal aberrations.
Full text:
1
Database:
WPRIM
Main subject:
Ring Chromosomes
/
Chromosomes, Human, Pair 18
/
Developmental Disabilities
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Chromosome Aberrations
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Syndactyly
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Cytogenetics
/
Genetics
/
Karyotyping
Type of study:
Diagnostic_studies
Limits:
Child
/
Humans
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Document type:
Article