Literature DB >> 22987734

Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes.

Luis Fernández1, Julián Nevado, María L De Torres, Elena Mansilla, Elena Vallespín, Sixto García-Miñaúr, Rebeca Palomo, Lucía Deirós, Marta Cabrera, Elia Dina Galo, Pablo Lapunzina, Alicia Delicado.   

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Year:  2012        PMID： 22987734     DOI： 10.1002/ajmg.a.35595

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


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  2 in total

1.  Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier.

Authors:  Alicia Delicado; Luis Fernández; María Luisa de Torres; Julián Nevado; Fe Amalia García-Santiago; Roberto Rodríguez; Elena Mansilla; María Palomares; Fernando Santos-Simarro; Elena Vallespín; María Ángeles Mori; Pablo Lapunzina
Journal:  BMC Med Genet       Date:  2014-10-29       Impact factor: 2.103

2.  Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication.

Authors:  Renato Pires; Luís M Pires; Sara O Vaz; Paula Maciel; Rui Anjos; Raquel Moniz; Claudia C Branco; Rita Cabral; Isabel M Carreira; Luisa Mota-Vieira
Journal:  BMC Genet       Date:  2014-11-07       Impact factor: 2.797
  2 in total

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