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

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

Author Bragagnolo, Silvia Google Scholar
Colovati, Mileny E. S. Google Scholar
Guilherme, Roberta S. Google Scholar
Dantas, Anelisa G. Google Scholar
de Souza, Malu Zamariolli Google Scholar
de Soares, Maria F. Google Scholar
Melaragno, Maria I. Google Scholar
Perez, Ana B. Google Scholar
Abstract 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

4)(p22.31

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
Keywords Deletion 4p
Epibulbar Dermoid
Translocation Sequencing
Wolf-Hirschhorn Syndrome
Xp DuplicationAuriculo-Vertebral Spectrum
Of-The-Literature
Chromosome Region
Manifestations
Translocation
Seizures
Phenotype
Update
Female
Language English
Sponsor Sao Paulo Research Foundation (FAPESP) [2013/04623-2]
Grant number FAPESP: 2013/04623-2
Date 2016
Published in Cytogenetic And Genome Research. Basel, v. 150, n. 1, p. 17-22, 2016.
ISSN 1424-8581 (Sherpa/Romeo, impact factor)
Publisher Esmon Publicidad S A
Extent 17-22
Origin https://doi.org/10.1159/000452237
Access rights Closed access
Type Article
Web of Science ID WOS:000392331200002
URI http://repositorio.unifesp.br/handle/11600/49273

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