Case Report of Genetic Abnormalities in a 6-Year-Old Boy
Author Information
Author(s): Manolakos Emmanouil, Sarri Catherine, Vetro Annalisa, Kefalas Konstantinos, Leze Eleni, Sofocleus Christalena, Kitsos George, Merou Konstantina, Kokotas Haris, Papadopoulou Anna, Attilakos Achilleas, Petersen Michael B, Kitsiou-Tzeli Sofia
Primary Institution: Bioiatriki S.A., Laboratory of Genetics, Athens, Greece
Hypothesis
What are the clinical and molecular findings associated with the co-occurrence of 22q11.1-q11.21 deletion and 15q11.2-q13.3 duplication?
Conclusion
The study presents a unique case of a boy with both DiGeorge syndrome and a 15q11.2-q13.3 duplication, highlighting the importance of genetic analysis in understanding developmental delays.
Supporting Evidence
- The boy exhibited growth retardation and learning difficulties.
- FISH analysis revealed a deletion of the DiGeorge Syndrome critical region.
- Array-CGH analysis showed a 3.2 Mb deletion at 22q11.1-q11.21 and a 12.9 Mb duplication at 15q11.2-q13.3.
- The mother had a cryptic balanced translocation between chromosome 15 and chromosome 22.
Takeaway
A 6-year-old boy had two genetic problems that made him grow slowly and learn with difficulty. Doctors used special tests to find out what was wrong.
Methodology
Fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (array-CGH) were used to analyze the genetic abnormalities.
Limitations
The study is based on a single case, limiting the generalizability of the findings.
Participant Demographics
The participant is a 6-year-old boy from non-consanguineous, healthy parents.
Digital Object Identifier (DOI)
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