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Updated: Jul 3, 2026
07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 24, 2011
[Secondary 18q2 due to a paternal double translocation]
Journal De Genetique Humaine
|September 1, 1983
Summary
A boy with Trisomy 18q2, linked to a complex paternal chromosomal rearrangement involving chromosomes 9, 10, and 18, is presented. This case highlights specific phenotypical features and explores the origins of complex chromosomal rearrangements.
Area of Science:
- Genetics
- Human Chromosomal Abnormalities
- Developmental Biology
Background:
- Trisomy 18q2 is a rare chromosomal abnormality.
- Complex chromosomal rearrangements can lead to various genetic disorders.
- Understanding chromosomal rearrangements is crucial for genetic counseling and diagnosis.
Observation:
- A case of Trisomy 18q2 in a male child is reported.
- The condition was associated with a reciprocal translocation stemming from a paternal balanced complex chromosomal rearrangement.
- The rearrangement involved chromosomes 9, 10, and 18.
Findings:
- Phenotypical data associated with Trisomy 18q2 were analyzed.
- Specific clinical signs characteristic of this condition were identified.
- The study discusses the occurrence of complex chromosomal rearrangements and considers various hypotheses regarding their origin.
Implications:
- This case contributes to the understanding of Trisomy 18q2 and its genetic basis.
- It underscores the importance of detailed chromosomal analysis in cases of developmental abnormalities.
- Further research into complex chromosomal rearrangements can improve diagnostic accuracy and genetic counseling.
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