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

Author(s)

Bellucco, Fernanda T. ; Nunes, Natalia ; Colovati, Mileny E. S. ; Malinverni, Andrea C. M. ; Caneloi, Thamy P. ; Soares, Maria F. ; Perez, Ana B. A. ; Melaragno, Maria I.

• Document type: Journal article
• Source: Cytogenetic and Genome Research; v. 152, n. 1, p. 29-32, AUG 2017.
• Web of Science Citations: 1

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 (AU)

• FAPESP's process: 14/11572-8 - Chromosomal rearrangements and their relevance in the etiology of genetic disorders: cytogenomic and molecular investigation
• Grantee: Maria Isabel de Souza Aranha Melaragno
• Support Opportunities: Research Projects - Thematic Grants