Study of a Rare Chromosome Abnormality in a Normal Baby
Author Information
Author(s): Kitsiou-Tzeli Sofia, Manolakos Emmanouil, Lagou Magdalini, Kontodiou Maria, Kosyakova Nadezda, Ewers Elisabeth, Weise Anja, Garas Antonios, Orru Sandro, Liehr Thomas, Metaxotou Aikaterini
Primary Institution: Department of Medical Genetics, University of Athens
Hypothesis
Can molecular cytogenetic techniques improve the diagnosis of small supernumerary marker chromosomes (sSMCs) detected prenatally?
Conclusion
The study highlights the effectiveness of molecular cytogenetics in diagnosing a rare chromosome abnormality in a phenotypically normal male.
Supporting Evidence
- The incidence of small supernumerary marker chromosomes is estimated at 1 in 1000 prenatal samples.
- The child showed normal pre- and postnatal development despite the presence of the extra chromosome.
- Fluorescence in situ hybridization techniques revealed three distinguishable supernumerary marker chromosomes.
Takeaway
This study looked at a baby who had an extra tiny chromosome but was otherwise healthy, showing that special tests can help find these kinds of chromosome issues before birth.
Methodology
The study used amniocentesis and fluorescence in situ hybridization (FISH) techniques to analyze the chromosomes.
Limitations
Limited data on genotype-phenotype correlations for small supernumerary marker chromosomes.
Participant Demographics
The participant was a 36-year-old woman with a healthy husband, and they had no family history of genetic disorders.
Digital Object Identifier (DOI)
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