Unusual Chromosomal Rearrangement Resulted in Interstitial Monosomy 9p: Case Report.
Cytogenet Genome Res
; 148(1): 19-24, 2016.
Article
in En
| MEDLINE
| ID: mdl-27166162
ABSTRACT
We report on a 4.5-year-old boy with interstitial monosomy 9p in a unique and complex de novo rearrangement. The patient had been referred for craniofacial dysmorphism, delayed psychomotor development, and various congenital malformations. We combined cytogenetic studies and FISH analyses to delineate the deletion. The result of our cytogenetic studies was 46,XY,der(9)(p22pter). In order to confirm the deletion, we also performed FISH analysis, which showed that the 9p subtelomeric region was inserted into chromosome 13. Molecular karyotyping was performed to describe the exact genomic breakpoints of the rearrangement. In conclusion, this case is a complex insertion/deletion abnormality which has not been reported before.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Limits:
Child, preschool
/
Humans
/
Male
Language:
En
Journal:
Cytogenet Genome Res
Journal subject:
GENETICA
Year:
2016
Document type:
Article
Affiliation country: