Mosaic 22q11.2 Microdeletion Syndrome: Diagnosis and Clinical Manifestations of Two Cases
Author Information
Author(s): Halder Ashutosh, Jain Manish, Kabra Madhulika, Gupta Neerja
Primary Institution: All India Institute of Medical Sciences, New Delhi, India
Hypothesis
Can mosaic 22q11.2 microdeletion syndrome present with severe phenotypes despite low levels of deleted cells?
Conclusion
Mosaic 22q11.2 microdeletion syndrome can present with significant clinical features even when the proportion of deleted cells is low.
Supporting Evidence
- Both cases exhibited clinical features consistent with 22q11.2 microdeletion syndrome.
- One child had trigonocephaly in addition to other symptoms.
- FISH analysis confirmed mosaicism in blood, buccal, and urine cells.
Takeaway
This study talks about two boys who have a rare condition called mosaic 22q11.2 microdeletion syndrome, which can cause heart problems and unusual facial features.
Methodology
The study used interphase and metaphase FISH analysis to diagnose mosaicism in blood, buccal, and urine cells.
Limitations
The study is based on only two cases, which limits the generalizability of the findings.
Participant Demographics
Two unrelated male children from India.
Digital Object Identifier (DOI)
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