Detection of 9p partial trisomy using array-based comparative genomic hybridization / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 52-55, 2012.
Article
in Zh
| WPRIM
| ID: wpr-295534
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To detect chromosomal aberrations in a child with developmental delay and speech and language disorders in order to explore the underlying genetic causes of congenital malformation, and to investigate the feasibility of array-based comparative genomic hybridization (array-CGH) for molecular genetic diagnosis.</p><p><b>METHODS</b>G-banding and array-CGH were applied to characterize the genetic abnormality in the three family members.</p><p><b>RESULTS</b>G-banding analysis revealed the affected child and the healthy mother are both carriers of inv(9)(p13q13), while the child has carried a chromosome fragment derived from chromosome 13. Array-CGH analysis indicated the derivative chromosome fragment has originated from 9p with breakpoints at around 9p13.1-p24.3.</p><p><b>CONCLUSION</b>Trisomy 9p13.1-p24.3 may be the cause of congenital malformation in the child. For its high resolution and high accuracy, array-CGH is a powerful tool for genetic analysis.</p>
Full text:
1
Database:
WPRIM
Main subject:
Trisomy
/
Chromosomes, Human, Pair 9
/
Chromosome Aberrations
/
Diagnosis
/
Comparative Genomic Hybridization
/
Genetics
/
Methods
Type of study:
Diagnostic_studies
Limits:
Child, preschool
/
Female
/
Humans
/
Male
/
Pregnancy
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2012
Document type:
Article