Complex Chromosome Rearrangement in a Child with Microcephaly
Author Information
Author(s): Emmanouil Manolakos, Nadezda Kosyakova, Loreta Thomaidis, Rozita Neroutsou, Anja Weise, Markos Mihalatos, Sandro Orru, Haris Kokotas, George Kitsos, Thomas Liehr, Michael B Petersen
Conclusion
The study reports a case of a child with a complex chromosomal rearrangement involving a deletion and duplication on chromosome 18, contributing to his developmental issues.
Supporting Evidence
- The patient exhibited mild microcephaly and dysmorphic facial features.
- Chromosomal analysis revealed a normal male karyotype in 50% of the cells and a terminal deletion in the other 50%.
- Molecular cytogenetic investigation confirmed the presence of a deletion and a duplication on chromosome 18.
Takeaway
This study is about a boy who has some health problems because of changes in his chromosomes, which are like the instructions for his body. The doctors found that one of his chromosomes was missing a piece and another had an extra piece.
Methodology
The study involved clinical findings, cytogenetic analysis, FISH, and array-CGH to investigate the chromosomal abnormalities.
Participant Demographics
The participant was a 7 years and 4 months old Greek boy.
Digital Object Identifier (DOI)
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