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Genomic imbalances in syndromic congenital heart disease [Desequilíbrios genômicos na cardiopatia congênita sindrômica]
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نویسنده
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molck m.c. ,simioni m. ,paiva vieira t. ,sgardioli i.c. ,paoli monteiro f. ,souza j. ,fett-conte a.c. ,félix t.m. ,lopes monlléo i. ,gil-da-silva-lopes v.l.
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منبع
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jornal de pediatria - 2017 - دوره : 93 - شماره : 5 - صفحه:497 -507
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چکیده
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Objective to identify pathogenic genomic imbalances in patients presenting congenital heart disease (chd) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 ds). methods 78 patients negative for the 22q11.2 deletion,previously screened by fluorescence in situ hybridization (fish) and/or multiplex ligation probe amplification (mlpa) were tested by chromosomal microarray analysis (cma). results clinically significant copy number variations (cnvs ≥300 kb) were identified in 10% (8/78) of cases. in addition,potentially relevant cnvs were detected in two cases (993 kb duplication in 15q21.1 and 706 kb duplication in 2p22.3). genes inside the cnv regions found in this study,such as irx4,bmpr1a,sorbs2,id2,rock2,e2f6,gata4,sox7,semad6d,fbn1,and ltpb1 are known to participate in cardiac development and could be candidate genes for chd. conclusion these data showed that patients presenting chd with extra cardiac anomalies and exclusion of 22q11.2 ds should be investigated by cma. the present study emphasizes the possible role of cnvs in chd. © 2017 sociedade brasileira de pediatria
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کلیدواژه
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22q11 deletion syndrome; Chromosome aberrations; Comparative genomic hybridization; Congenital heart defects; DNA copy number variations
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آدرس
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universidade estadual de campinas (unicamp),departamento de genética médica,campinas,sp, Brazil, universidade estadual de campinas (unicamp),departamento de genética médica,campinas,sp, Brazil, universidade estadual de campinas (unicamp),departamento de genética médica,campinas,sp, Brazil, universidade estadual de campinas (unicamp),departamento de genética médica,campinas,sp, Brazil, universidade estadual de campinas (unicamp),departamento de genética médica,campinas,sp, Brazil, centro de atendimento integral ao fissurado lábio palatal (caif),curitiba,pr, Brazil, faculdade de medicina de são josé do rio preto,departamento de biologia molecular,são josé do rio preto,sp, Brazil, hospital de clínicas de porto alegre,serviço de genética médica,porto alegre,rs, Brazil, universidade federal de alagoas (ufal),hospital universitário,faculdade de medicina,serviço de genética clínica,maceióal, Brazil, universidade estadual de campinas (unicamp),departamento de genética médica,campinas,sp, Brazil
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Authors
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