Literature DB >> 23401394

De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly.

Nicoletta Resta, Lucrezia De Cosmo, Francesco Claudio Susca, Donatella Capodiferro, Anna Maria Nardone, Diana Pastorivo, Marta Bertoli, Carmela Serlenga, Mariagabriella Burattini, Federico Schettini, Nicola Laforgia.   

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Year:  2013        PMID： 23401394     DOI： 10.1002/ajmg.a.35777

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents.

Authors:  Dilek U Alkaya; Birsen Karaman; Beyhan Tüysüz
Journal:  Mol Syndromol       Date:  2020-04-02

2.  19q13.33→qter trisomy in a girl with intellectual impairment and seizures.

Authors:  Gianna Carvalheira; Mariana Moysés Oliveira; Sylvia Takeno; Fernanda Teresa de Lima; Vera Ayres Meloni; Maria Isabel Melaragno
Journal:  Meta Gene       Date:  2014-10-27

3.  The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing.

Authors:  Jun Wang; Yan Wang; Liwen Wang; Wang Yang Chen; Min Sheng
Journal:  BMC Med Genomics       Date:  2020-05-19       Impact factor: 3.063
  3 in total

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