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Recombinant chromosome 18 resulting from a maternal pericentric inversion
H Ayukawa1, M Tsukahara, M Fukuda
1Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
American Journal of Medical Genetics
|May 1, 1994
Summary
A rare genetic condition, partial trisomy 18q syndrome, was identified in a newborn due to a maternal pericentric inversion. This case highlights the complex chromosomal rearrangements and their clinical effects.
Area of Science:
- Human Genetics
- Chromosomal Abnormalities
- Pediatric Medicine
Background:
- Pericentric inversions of chromosome 18 can lead to unbalanced rearrangements in offspring.
- Meiotic recombination within inverted segments can result in partial duplications and deficiencies.
Observation:
- A newborn presented with clinical features consistent with partial trisomy 18q syndrome.
- The infant had a duplication of 18q12.2-->18qter and a deficiency of 18p11.2-->18pter.
- This chromosomal imbalance arose from a maternal pericentric inversion, inv(18)(p11.2q12.2).
Findings:
- The identified chromosomal abnormality is a rec(18) resulting from recombination of the maternal pericentric inversion.
- The patient's phenotype aligns with previously described cases of partial trisomy 18q syndrome.
Implications:
- This case expands the understanding of rare chromosomal disorders arising from parental inversions.
- Genetic counseling is crucial for families with pericentric inversions to assess risks of unbalanced rearrangements.
- Further research into genotype-phenotype correlations in partial trisomy 18q syndrome is warranted.