Mosaicism for r(X) and der(X) provides insight into chromosome rearrangement
Author Information
Author(s): Oleg A. Shchelochkov, M. Lance Cooper, Zhishuo Ou, Sandra Peacock, Svetlana A. Yatsenko, Chester W. Brown, Ping Fang, Pawel Stankiewicz, Sau Wai Cheung
Primary Institution: Baylor College of Medicine
Hypothesis
We hypothesize that a prezygotic asymmetric crossing over within a loop formed during meiosis in an X chromosome with a paracentric inversion resulted in an intermediate dicentric chromosome.
Conclusion
The study reveals a unique cytogenetic abnormality involving mosaicism for r(X) and a deleted Xp derivative chromosome, providing insights into the mechanisms of chromosome rearrangement.
Supporting Evidence
- The patient presented with failure to thrive, muscular hypotonia, and minor facial anomalies.
- Brain MRI revealed mild thinning of the corpus callosum and an asymmetric myelination pattern.
- Array comparative genome hybridization analysis revealed mosaicism for the X chromosome and a deletion of the short arm of an X chromosome.
Takeaway
This study looks at a girl with a special type of chromosome problem that caused her to have health issues, helping us understand how these problems can happen.
Methodology
The study used array comparative genome hybridization, G-banded chromosome analysis, and X chromosome inactivation studies to analyze the patient's chromosomes.
Limitations
Parental chromosomes were not available for further analysis to confirm the proposed mechanisms.
Participant Demographics
The participant was a 10-month-old girl with clinical features of Turner syndrome.
Digital Object Identifier (DOI)
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