کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2814023 | 1569507 | 2012 | 5 صفحه PDF | دانلود رایگان |
While deletion of chromosome 17p13.3 (encompassing PAFAH1B1 and YWHAE genes) is known to result in Miller–Dieker syndrome (OMIM 247200), 17p13.3 microduplication gives rise to a condition commonly associated with developmental delay and autism spectrum disorder. We report a Chinese newborn presenting with dysmorphic features, microcephaly and valvar aortic stenosis, who was confirmed to have a 790 kb microduplication in chromosome 17p13.3 by array comparative genomic hybridization (aCGH). The patient passed away at 4 months of age with presumably life-threatening event associated with his cardiac condition. From literature review, congenital heart diseases of various kinds were identified in up to 20% of patients with 17p13.3 microduplication. We propose cardiac assessment should be part of the comprehensive evaluation of these patients.
► There are two classes of 17p13.3 microduplication.
► Class I involves YWHAE gene, but not PAFAH1B1 gene.
► Class II involves PAFAH1B1 gene, with or without YWHAE gene.
► Congenital heart diseases were identified in up to 20% of patients with 17p13.3 microduplication.
► Cardiac assessment should be part of the evaluation of patients with 17p13.3 microduplication.
Journal: European Journal of Medical Genetics - Volume 55, Issue 12, December 2012, Pages 758–762