ArticleCureus2022
New Phenotypic Feature in a Patient With a Rare Triplication of the 22q11.2 Region Presenting With Peters Anomaly, Congenital Heart Disease, and Global Developmental Delay: A Case Report and Literature Review.
Article in Cureus, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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5 authors at 3 institutions in 1 country.
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Abstract
The vulnerability of chromosome 22q11.2 region to rearrangement is due to several low copy repeat (LCR) sequences. These rearrangements are involved in syndromes that share similar phenotypic features. The rearrangements of the 22q11.2 chromosomal region are common, specifically, duplications and deletions associated with congenital anomalies and developmental disabilities disorders. However, the features associated with this chromosomal rearrangement remain largely unknown. We present, to the best of our knowledge, the third patient affected by triplication of the 22q11.2 chromosome region, who presents with Peters anomaly, global developmental delay, patent ductus arteriosus, and subaortic stenosis. This case highlights a new phenotypic feature associated with triplication of this genomic region.
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