Related Experiment Video
Updated: Mar 10, 2026
09:16
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
20.6K
[Improved identification for trisomy 9p and partial trisomy 6q presented in a patient by array-based comparative
Jianlin Zhang1, Jin Cai, Yimei Yang
1Department of Gynecology and Obstetrics, The Hospital Affiliated to Nantong University, Nantong, Jiangsu 226001, China. jsnt_zhangyuquan@163.com; lihaibo-775@163.com.
Summary
Maternal translocation of chromosomes 6 and 9 resulted in partial trisomy of chromosome 9 and 6q26-q27 in a child, causing growth and mental retardation. Array-based comparative genomic hybridization (aCGH) precisely identified these genetic abnormalities.
Area of Science:
- Genetics
- Molecular Biology
- Developmental Biology
Background:
- Genetic abnormalities are a significant cause of developmental disorders.
- Accurate molecular genetic diagnosis is crucial for understanding and managing these conditions.
- Array-based comparative genomic hybridization (aCGH) is an advanced technique for detecting chromosomal imbalances.
Observation:
- A child presented with unexplained growth retardation and mental retardation.
- Conventional karyotyping revealed a complex chromosomal rearrangement in the proband.
- The mother carried a balanced translocation, t(6;9)(q26;q21).
Findings:
- The proband had trisomy for 9p24.3-q21.13 (78.26 Mb) and 6q26-q27 (6.6 Mb), originating from the mother's translocation.
- aCGH confirmed the size and origin of the extra chromosomal fragments, identifying the specific regions associated with developmental delay.
- The final karyotype was determined as 47,XX,+der(9)t(6;9)(q26;q21.13)mat.
Implications:
- The identified chromosomal duplications are strongly associated with the observed growth and mental retardation.
- aCGH, in conjunction with cytogenetic methods, provides accurate and detailed genetic analysis for complex chromosomal abnormalities.
- This case highlights the utility of aCGH in diagnosing genetic disorders and understanding genotype-phenotype correlations.
