BACKGROUND: Congenital heart diseases (CHDs) are often associated with other congenital anomalies, dysmorphic features, and developmental delay, and only a few cases of chromosomal abnormalities are detected by conventional cytogenetic techniques. The microarray comparative genomic hybridization (CGH) analysis allows the identification of submicroscopic genomic rearrangements. METHODS: During the past 3 y, 55 of 330 patients referred for array CGH had CHD of unknown etiology plus at least one additional indication of abnormal chromosomal phenotype. High-resolution 1 × 244 K or 4 × 180 K Agilent arrays were used in this study (average resolution 7-13 kb). RESULTS: Copy-number variations were detected in 37 of 55 patients, and in 29 of 37 patients there were genes that have been associated with CHD. All 37 patients had at least one additional phenotypic abnormality: 30 of 37 had one or more other congenital anomalies, 23 of 37 had dysmorphic features, 16 of 37 had intellectual disability, 13 of 37 had abnormal magnetic resonance imaging, 10 of 37 had hypotonia, and 7 of 37 had seizures. In 9 of 55 patients, unexpected genomic rearrangements in relation to their phenotype were identified. CONCLUSION: In patients with CHD and at least one additional indication of abnormal chromosomal phenotype, array CGH analysis could detect possible submicroscopic chromosomal abnormalities and provide proper genetic counseling.
BACKGROUND:Congenital heart diseases (CHDs) are often associated with other congenital anomalies, dysmorphic features, and developmental delay, and only a few cases of chromosomal abnormalities are detected by conventional cytogenetic techniques. The microarray comparative genomic hybridization (CGH) analysis allows the identification of submicroscopic genomic rearrangements. METHODS: During the past 3 y, 55 of 330 patients referred for array CGH had CHD of unknown etiology plus at least one additional indication of abnormal chromosomal phenotype. High-resolution 1 × 244 K or 4 × 180 K Agilent arrays were used in this study (average resolution 7-13 kb). RESULTS: Copy-number variations were detected in 37 of 55 patients, and in 29 of 37 patients there were genes that have been associated with CHD. All 37 patients had at least one additional phenotypic abnormality: 30 of 37 had one or more other congenital anomalies, 23 of 37 had dysmorphic features, 16 of 37 had intellectual disability, 13 of 37 had abnormal magnetic resonance imaging, 10 of 37 had hypotonia, and 7 of 37 had seizures. In 9 of 55 patients, unexpected genomic rearrangements in relation to their phenotype were identified. CONCLUSION: In patients with CHD and at least one additional indication of abnormal chromosomal phenotype, array CGH analysis could detect possible submicroscopic chromosomal abnormalities and provide proper genetic counseling.
Authors: Michelle J Doyle; Jamie L Lohr; Christopher S Chapman; Naoko Koyano-Nakagawa; Mary G Garry; Daniel J Garry Journal: Stem Cell Rev Rep Date: 2015-10 Impact factor: 5.739
Authors: Wilson Wai Sing Chong; Ivan Fai Man Lo; Stephen Tak Sum Lam; Chi Chiu Wang; Ho Ming Luk; Tak Yeung Leung; Kwong Wai Choy Journal: Mol Cytogenet Date: 2014-05-23 Impact factor: 2.009
Authors: Juan Geng; Jonathan Picker; Zhaojing Zheng; Xiaoqing Zhang; Jian Wang; Fuki Hisama; David W Brown; Mary P Mullen; David Harris; Joan Stoler; Ann Seman; David T Miller; Qihua Fu; Amy E Roberts; Yiping Shen Journal: BMC Genomics Date: 2014-12-17 Impact factor: 3.969