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Updated: Jul 2, 2026
07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Identification of Complex Chromosomal Rearrangement Involving Chromosomes 10, 18, and 19 in a Family Undergoing
Duo Zhou1, Wenchang Lian2, Huoniao Wang1
1Department of Medical Genetics and Prenatal Diagnosis Hainan Women and Children's Medical Center Haikou Hainan China.
Clinical Case Reports
|July 1, 2026
Summary
Complex chromosomal rearrangements (CCRs) are rare and hard to detect. Chromosome conformation-based karyotyping (c-Moka) successfully identified CCRs missed by conventional methods, revealing a complex rearrangement involving chromosomes 10, 18, and 19.
Area of Science:
- Genetics
- Molecular Biology
- Cytogenetics
Background:
- Complex chromosomal rearrangements (CCRs) are rare structural abnormalities.
- Conventional karyotyping and FISH can struggle to detect complex CCRs.
- Emerging technologies like c-Moka offer new diagnostic possibilities.
Purpose of the Study:
- To investigate a case of suspected CCRs in a gravida with high-risk prenatal screening.
- To evaluate the efficacy of chromosome conformation-based karyotyping (c-Moka) in detecting complex chromosomal rearrangements.
- To determine the precise karyotype of the subject.
Main Methods:
- Conventional karyotyping and fluorescence in situ hybridization (FISH) were initially performed.
- Chromosome conformation-based karyotyping (c-Moka) was employed for advanced analysis.
- A gravida with high-risk non-invasive prenatal testing results was studied.
Main Results:
- Conventional methods suggested a translocation between chromosomes 18 and 19, but FISH results were inconclusive.
- c-Moka identified complex chromosomal rearrangements (CCRs) involving chromosomes 10, 18, and 19.
- The final karyotype was determined as 46,XX,t(10;18;19)(q26.3;p11.21;p13.3).
Conclusions:
- c-Moka demonstrates significant advantages over conventional karyotyping for detecting complex chromosomal rearrangements.
- This case highlights the utility of c-Moka in diagnosing challenging chromosomal abnormalities.
- Accurate identification of CCRs is crucial for genetic counseling and reproductive planning.
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