Case Report of Chromosome Abnormality Involving Monosomy 21
Author Information
Author(s): Vorsanova Svetlana G, Iourov Ivan Y, Voinova-Ulas Victoria Y, Weise Anja, Monakhov Victor V, Kolotii Alexei D, Soloviev Ilia V, Novikov Petr V, Yurov Yuri B, Liehr Thomas
Primary Institution: Institute of Pediatrics and Children Surgery, Roszdrav, Moscow, Russia
Hypothesis
Can full monosomy of chromosome 21 in live-born children be attributed to unbalanced translocations?
Conclusion
The study suggests that some cases previously diagnosed as full monosomy of chromosome 21 may actually be due to unbalanced translocations involving chromosome 21.
Supporting Evidence
- The patient exhibited multiple congenital malformations including mental retardation and skeletal abnormalities.
- Initial cytogenetic analysis suggested full monosomy of chromosome 21.
- Molecular cytogenetics revealed an unbalanced translocation involving chromosomes 7 and 21.
- The final karyotype was established as 45,XX,der(7)t(7;21)(q34;q22.13),-21.
Takeaway
This study talks about a little girl who was thought to have a missing chromosome 21, but it turned out she had a mix-up between two chromosomes instead.
Methodology
Cytogenetic analysis and fluorescence in situ hybridization (FISH) were used to study the chromosomes.
Limitations
The study is based on a single case, which may limit the generalizability of the findings.
Participant Demographics
The participant was a 2.5-year-old female with no family history of mental retardation or developmental delay.
Digital Object Identifier (DOI)
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