Wolf-hirschhorn syndrome with epibulbar dermoid: an unusual association in a patient with 4p deletion and functional xp disomy

Nenhuma Miniatura disponível
Bragagnolo, Silvia
Colovati, Mileny E. S.
Guilherme, Roberta S.
Dantas, Anelisa G.
de Souza, Malu Zamariolli
de Soares, Maria F.
Melaragno, Maria I.
Perez, Ana B.
Título da Revista
ISSN da Revista
Título de Volume
Wolf-Hirschhorn syndrome (WHS) is a contiguous gene and multiple malformation syndrome that results from a deletion in the 4p16.3 region. We describe here a 6-month-old girl that presented with WHS features but also displayed unusual findings, such as epibulbar dermoid in the left eye, ear tags, and left microtia. Although on G-banding her karyotype appeared to be normal, chromosomal microarray analysis revealed an similar to 13-Mb 4p16.3p15.33 deletion and an similar to 9-Mb Xp22.33p22.31 duplication, resulting from a balanced maternal t(X
p15.33) translocation. The patient presented with functional Xp disomy due to an unbalanced X-autosome translocation, a rare cytogenetic finding in females with unbalanced rearrangements. Sequencing of both chromosome breakpoints detected no gene disruption. To the best of our knowledge, this is the first patient described in the literature with WHS and epibulbar dermoid, a typical characteristic of the oculoauriculovertebral spectrum (OAVS). Our data suggest that possible candidate genes for OAVS may have been deleted along with the WHS critical region. (C) 2016 S. Karger AG, Basel
Cytogenetic And Genome Research. Basel, v. 150, n. 1, p. 17-22, 2016.