A mosaic karyotype of 45,X/46,X,psu idic(Y)(q12) in a ten-year-old boy: integrating high-throughput sequencing with cytogenetic technique for precise diagnosis and genetic counselling.
BMC Pediatr
; 23(1): 104, 2023 03 04.
Article
in En
| MEDLINE
| ID: mdl-36870983
ABSTRACT
BACKGROUND:
Isodicentric Y chromosome (idic(Y)) is the most commonly reported aberration of the human Y chromosome, which is an important cause of abnormal sexual development. The breakpoints of isodicentric Y chromosome mostly occurred in Yq11.2 and Yp11.3, however, the breakpoints in Yq12 are relatively rare. CASE PRESENTATION We described a 10-year-old boy presenting hypospadias, micropenis and short stature, as well as unilateral cryptorchidism without normal testicular seminiferous tubules structure by biopsy. Whole exome sequencing didn't find any pathogenic/likely pathogenic variants related to phenotypes of this patient. Copy number variation sequencing showed the duplication of whole Y chromosome. Subsequently, karyotyping and FISH analyses demonstrated his genetic diagnosis was mosaic 45,X[8]/46,X,psu idic(Y)(q12)[32], with the breakpoint in Yq12.CONCLUSIONS:
Our case proved that it would be beneficial to integrate high-throughput sequencing with cytogenetic technique for precise diagnosis, treatment and genetic counselling.Key words
Full text:
1
Database:
MEDLINE
Main subject:
DNA Copy Number Variations
/
Genetic Counseling
Type of study:
Diagnostic_studies
Limits:
Child
/
Humans
/
Male
Language:
En
Journal:
BMC Pediatr
Journal subject:
PEDIATRIA
Year:
2023
Type:
Article
Affiliation country:
China