AI Article Synopsis
- - The study examines a patient with distinct features of brachydactyly, developmental delay, and a specific chromosomal deletion on the long arm of chromosome 13 (13q22 to q31).
- - A literature review identified only a few other cases with similar chromosomal deletions, but they showed minimal similarity to the current patient.
- - The authors discuss the link between the observed physical characteristics (phenotype) and the regions of DNA that are missing (deleted) in the context of these cases.
Article Abstract
In the present study we describe a patient with characteristic brachydactily, developmental delay and interstitial del 13q22-->q31. After the review of the literature, few cases sharing similar chromosomal deletions were found and they displayed little resemblance with our patient. We discuss the phenotype correlation among the deleted regions in such cases.
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| http://dx.doi.org/10.1097/01.mcd.0000204990.46743.7b | DOI Listing |
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