Atypical Prader-Willi and 15q13.3 Microdeletion Syndromes in a Patient with an Unbalanced Translocation

Autor(es)

Colovati, Mileny E. S. ^[1] ; Grossi, Beatriz M. ^[1] ; Nunes, Gabriela D. ^[1] ; Fock, Rodrigo A. ^{[2, 1]} ; Guedes, Dulce R. ^[1] ; Melaragno, Maria I. ^[2] ; Cernach, Mirlene C. S. P. ^[1]

Afiliação do(s) autor(es)

^[1] Univ Metropolitana Santos, Dept Genet, Av Conselheiro Nebias 536, BR-11045002 Santos, SP - Brazil

^[2] Univ Fed Sao Paulo, Dept Morphol & Genet, Genet Div, Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Cytogenetic and Genome Research; v. 158, n. 4, p. 192-198, SEP 2019.
• Citações Web of Science: 0

Resumo

Prader-Willi syndrome (PWS) and recurrent 15q13.3 microdeletion syndrome can be caused by genomic rearrangements in the complex 15q11q13 chromosomal region. Here, we describe the first female child with PWS and 15q13.3 microdeletion syndrome resulting from an unusual 10.7-Mb deletion from 15pter to 15q13.3 due to an unbalanced de novo 15;19 translocation. The patient presents with hypotonia, microcephaly, developmental delay with lack of speech, intellectual disability, happy demeanor, clinodactyly of the 4th and 5th fingers, and dysmorphic facial features discordant for PWS and consistent with an atypical phenotype. (AU)

• Processo FAPESP: 14/11572-8 - Rearranjos cromossômicos e sua importância na etiologia das doenças genéticas: investigação citogenômica e molecular
• Beneficiário: Maria Isabel de Souza Aranha Melaragno
• Modalidade de apoio: Auxílio à Pesquisa - Temático