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Interstitial deletion 2(p11.2p13): a rare chromosomal abnormality
1Department of Pediatrics, University of Pittsburgh, Children's Hospital of Pittsburgh, PA, USA.
Clinical Genetics
|July 1, 1997
Summary
This report details a rare genetic condition, del(2)(p11.2p13), in an infant. The infant exhibited a severe phenotype including diaphragmatic eventration and features of a connective tissue disorder, ultimately expiring at two months.
Area of Science:
- Genetics
- Pediatrics
- Medical Case Reports
Background:
- The interstitial deletion of chromosome 2, del(2)(p11.2p13), is a rare chromosomal abnormality.
- Few cases have been reported, making the full phenotypic spectrum incompletely understood.