Piccione Maria, Piro Ettore, Serraino Francesca, Cavani Simona, Ciccone Roberto, Malacarne Michela, Pierluigi Mauro, Vitaloni Marianna, Zuffardi Orsetta, Corsello Giovanni
U.O. Pediatria e TIN Dipartimento Materno-Infantile, Università degli Studi di Palermo via Alfonso Giordano 3, 90127 Palermo, Italy.
Eur J Med Genet. 2012 Apr;55(4):238-44. doi: 10.1016/j.ejmg.2012.01.014. Epub 2012 Feb 18.
We report two individuals with developmental delay and dysmorphic features, in whom array-based comparative genomic hybridization (array CGH) led to the identification of a 2p15p16.1 de novo deletion. In the first patient (Patient 1) a familial deletion of 6q12, inherited from her father, was also detected. In the second patient (Patient 2) in addition to the 2p15p16.1 microdeletion a de novo deletion in Xq28 was detected. Both individuals shared dysmorphic features and developmental delay with the six reported patients with a 2p15p16.1 microdeletion described in medical literature.
in the first patient a 642 kb 2p16.1 deletion (from 60.604 to 61.246 Mb), and a 930 kb 6q12 familial deletion, was detected and in the second a 2.5 Mb 2p15p16.1 deletion (from 60.258 to 62.763 Mb), with a Xq28 deletion, was discovered. The common dysmorphic features and neurodevelopmental delay found in these patients are in agreement with the clinical phenotype of a microdeletion syndrome involving 2p15p16.1. Our data confirm the hypothesis suggesting that 2p15p16.1 deletion is a contiguous gene syndrome.
我们报告了两名患有发育迟缓及畸形特征的个体，通过基于芯片的比较基因组杂交技术（芯片比较基因组杂交，array CGH）鉴定出其存在2p15p16.1新发缺失。在首例患者（患者1）中，还检测到了从其父亲遗传而来的6q12家族性缺失。在第二例患者（患者2）中，除了2p15p16.1微缺失外，还检测到Xq28新发缺失。这两名个体与医学文献中报道的6例患有2p15p16.1微缺失的患者具有共同的畸形特征和发育迟缓。
在首例患者中，检测到一个642kb的2p16.1缺失（从60.604Mb至61.246Mb）以及一个930kb的6q12家族性缺失；在第二例患者中，发现一个2.5Mb的2p15p16.1缺失（从60.258Mb至62.763Mb），伴有Xq28缺失。这些患者中发现的共同畸形特征和神经发育迟缓与涉及2p15p16.1的微缺失综合征的临床表型相符。我们的数据证实了2p15p16.1缺失是一种相邻基因综合征的假说。
