Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature

被引:45
作者
Ballarati, Lucia [1 ]
Cereda, Anna [2 ]
Caselli, Rossella [1 ]
Selicorni, Angelo [2 ]
Recalcati, Maria P. [1 ]
Maitz, Silvia [2 ]
Finelli, Palma [1 ,3 ]
Larizza, Lidia [1 ,4 ]
Giardino, Daniela [1 ]
机构
[1] IRCCS Ist Auxol Italiano, Lab Citogenet Med & Genet Mol, Milan, Italy
[2] Fdn MBBM, AO S Gerardo, Clin Pediat Milano Bicocca, Monza, Italy
[3] Univ Milan, Dipartimento Biol & Genet Sci Med, Milan, Italy
[4] Univ Milan, Dipartimento Med Chirurg & Odontoiatria, Milan, Italy
关键词
8p23.1; deletion; Cardiac anomalies; CdLS; TNKS; DE-LANGE-SYNDROME; CONGENITAL HEART-DEFECTS; SISTER TELOMERE ASSOCIATION; DIAPHRAGMATIC-HERNIA; PRENATAL-DIAGNOSIS; CHROMOSOME; 8P23.1; SEPTAL-DEFECT; NIPPED-B; MUTATIONS; GATA4;
D O I
10.1016/j.ejmg.2010.10.003
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We describe a 6-year-old boy carrying a de novo 5 Mb interstitial deletion of chromosome 8p23.1 identified by means of oligonucleotide array comparative genomic hybridisation (array CGH), who showed the typical signs of 8p23.1 deletion syndrome, including congenital heart defects, microcephaly, psychomotor delay and behavioural problems. In order to estimate the role of suggested candidate genes, we compared the deletion of our patient with other previously reported and molecularly characterised deletions that have been re-evaluated on the basis of the current genetic map data. The inclusion of TNKS gene in the deletion interval without any phenotypical signs of Cornelia de Lange syndrome (CdLS) invalidates TNKS as a plausible candidate gene for the syndrome itself. (C) 2010 Elsevier Masson SAS. All rights reserved.
引用
收藏
页码:55 / 59
页数:5
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