[Detection of 9p partial trisomy using array-based comparative genomic hybridization].
OBJECTIVE
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.


METHODS
G-banding and array-CGH were applied to characterize the genetic abnormality in the three family members.


RESULTS
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.


CONCLUSIONS
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.
Center of Prenatal Diagnosis, Nanjing Maternal and Child Health Hospital Affiliated to Nanjing Medical University, Nanjing, Jiangsu 210004, P. R. China.
Xiao-yan
XY
Zhou
Ping
P
Hu
Yin-qiu
YQ
Yang
Li
L
Li
Yan
Y
Wang
Zhang-bin
ZB
Yu
Shu-ping
SP
Han
Xi-rong
XR
Guo
Zheng-feng
ZF
Xu
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods; D005260:Female; D006801:Humans; D008297:Male; D011247:Pregnancy; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics*