Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2012
[Detection of 9p partial trisomy using array-based comparative genomic hybridization].
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Zhou Xiao-yan, Hu Ping, Yang Yin-qiu, Li Li, Wang Yan, Yu Zhang-bin, Han Shu-ping, Guo Xi-rong, Xu Zheng-feng
Аннотация
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.
CONCLUSION: 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.
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.
CONCLUSION: 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.