Trisomy Disorders

Detection of 9p partial trisomy using array-based comparative genomic hybridization

Posted on: February 9, 2012

Detection of 9p partial trisomy using array-based comparative genomic hybridization

[Article in Chinese]

Feb 2012

Source

Center of Prenatal Diagnosis, Nanjing Maternal and Child Health Hospital Affiliated to Nanjing Medical University, Nanjing, Jiangsu 210004, P. R. China. njxzf@126.com; njfybjyhuping@163.com.

Abstract

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.

PubMed

http://www.ncbi.nlm.nih.gov/pubmed/22311492

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