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De novo 10q22 interstitial deletion
L Cook1, D D Weaver, J K Hartsfield
1Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA.
Journal of Medical Genetics
|February 9, 1999
Summary
A rare interstitial deletion on chromosome 10q22 was identified in a 4-month-old male. This case highlights the unique clinical features associated with this specific chromosomal abnormality.
Area of Science:
- Genetics
- Human Molecular Genetics
- Clinical Genetics
Background:
- Interstitial deletions of chromosome 10q are rare genetic events.
- Understanding the phenotypic spectrum of chromosomal abnormalities is crucial for diagnosis and management.
Observation:
- A 4-month-old male infant presented with growth deficiency, developmental delay, ocular hypertelorism, posteriorly rotated ears, retrognathia, and fifth finger clinodactyly.
- The patient later developed dental lamina cysts of the alveolar ridge.
Findings:
- This case represents the first reported instance of a de novo interstitial deletion specifically involving the 10q22 region.
- The identified deletion encompasses a unique set of clinical manifestations.
Implications:
- This report expands the known clinical spectrum associated with 10q deletions.
- Further research into the 10q22 region may elucidate specific gene functions and their roles in development.