Miller-Dieker Syndrome due to a 5.5-Mb 17p Deletion in a 17;Y Pseudodicentric Chromosome

Miller-Dieker Syndrome due to a 5.5-Mb 17p Deletion in a 17;Y Pseudodicentric Chromosome

Author Bellucco, Fernanda T. Autor UNIFESP Google Scholar
Nunes, Natalia Autor UNIFESP Google Scholar
Colovati, Mileny E. S. Autor UNIFESP Google Scholar
Malinverni, Andrea C. M. Autor UNIFESP Google Scholar
Caneloi, Thamy P. Autor UNIFESP Google Scholar
Soares, Maria F. Autor UNIFESP Google Scholar
Perez, Ana B. A. Autor UNIFESP Google Scholar
Melaragno, Maria I. Autor UNIFESP Google Scholar
Abstract Miller-Dieker syndrome (MDS) is a contiguous gene deletion syndrome in which almost all patients present de novo 17p13.3 deletions. We report on a male infant with MDS and an unusual unbalanced translocation involving chromosomes Y and 17 that resulted in a large 5.5-Mb 17pterp13.2 deletion and a karyotype with 45 chromosomes. Apart from the deletion of the MDS critical region, the deletion of additional distal genes seemed to have no major influence on the patient's phenotype, since he did not show any unusual clinical findings that are not commonly described in MDS patients. (C) 2017 S.Karger AG, Basel
Keywords Miller-Dieker syndrome
17p deletion
17;Y translocation
Language English
Sponsor FAPESP, Brazil
Grant number FAPESP: 2014/11572-8
Date 2017
Published in Cytogenetic And Genome Research. Basel, v. 152, n. 1, p. 29-32, 2017.
ISSN 1424-8581 (Sherpa/Romeo, impact factor)
Publisher Karger
Extent 29-32
Origin http://dx.doi.org/10.1159/000477920
Access rights Closed access
Type Article
Web of Science ID WOS:000407671500005
URI http://repositorio.unifesp.br/handle/11600/51461

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