Case Report of a Rare Chromosome Abnormality in a Child
Author Information
Author(s): Murthy Sabita K, Malhotra Ashok K, Jacob Preenu S, Naveed Sehba, Al-Rowaished Eman EM, Mani Sara, Padariyakam Shabeer, Pramathan R, Nath Ravi, Al-Ali Mahmoud Taleb, Al-Gazali Lihadh
Primary Institution: Genetics Center, Department of Health and Medical Services, DHA, Dubai, UAE
Hypothesis
What are the phenotypic effects of a de novo analphoid supernumerary marker chromosome in a child?
Conclusion
This case adds to the limited number of reported cases of analphoid inversion-duplication 3q supernumerary marker chromosomes and highlights the importance of precise genetic diagnosis.
Supporting Evidence
- The child presented with several dysmorphic features.
- The marker chromosome was characterized as analphoid inversion-duplication 3q25.33-qter.
- This case adds to the eight previously reported cases of analphoid inversion-duplication 3q supernumerary marker chromosomes.
Takeaway
A baby girl had a special chromosome that caused her to have some unusual physical features. This study helps doctors understand more about such rare chromosomes.
Methodology
The study involved cytogenetic analysis using G-banding, FISH, and aCGH on skin fibroblast cells.
Limitations
The study is based on a single case, limiting the generalizability of the findings.
Participant Demographics
One month old female child, second child of unrelated parents.
Digital Object Identifier (DOI)
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