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

Author(s)

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]

Affiliation

^[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

• Document type: Journal article
• Source: Cytogenetic and Genome Research; v. 158, n. 4, p. 192-198, SEP 2019.
• Web of Science Citations: 0

Abstract

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)

• 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