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07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Recombinant chromosome 14 due to maternal pericentric inversion
Vytautas Sliuzas1, Algirdas Utkus, Vaidutis Kucinskas
1Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Journal of Applied Genetics
|April 26, 2008
Summary
A rare pericentric inversion on chromosome 14 in a mother led to a recombinant chromosome 14 in her son, causing congenital malformations. This case highlights the risks of rare chromosomal abnormalities during inheritance.
Area of Science:
- Human Genetics
- Cytogenetics
- Reproductive Biology
Background:
- Chromosome 14 rearrangements are common, but pericentric inversions are rare due to its acrocentric nature.
- Pericentric inversions of chromosome 14 are infrequently documented in scientific literature.
Observation:
- A male infant presented with congenital malformations.
- Genetic analysis revealed a derivative chromosome 14 in the proband.
- The mother was identified as a carrier of a pericentric inversion on chromosome 14 [inv(14)(p11.2q32.1)].
Findings:
- Comparative genomic hybridization (CGH) detected a duplication in the terminal region of chromosome 14q [dup(14)(q32.1qter)].
- Fluorescence in situ hybridization (FISH) analysis confirmed the duplication.
- The proband inherited the recombinant chromosome 14 from his mother.
Implications:
- This case underscores the potential for rare chromosomal rearrangements, like pericentric inversions, to result in unbalanced derivatives with significant clinical consequences.
- It emphasizes the importance of detailed cytogenetic analysis in cases of congenital malformations with suspected parental chromosomal abnormalities.
- Understanding such rare events is crucial for genetic counseling and reproductive risk assessment.
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