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Updated: May 26, 2026
Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Microdeletion found by array-CGH in girl with blepharophimosis syndrome and apparently balanced translocation
Cristina González-González1, Maria García-Hoyos, Rosario Hernaez Calzón
1Department of Genetics, Megalab, Madrid, Spain. cgonzalezggen@yahoo.es
Background:
Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is a rare autosomal dominant congenital disorder. Mutations in FOXL2, a gene located at 3q23, have been shown to cause the syndrome. We report a girl with BPES with a "de novo" apparently balanced translocation between chromosomes 3 and 15: t(3;15)(q23;q25).
Material And Methods:
Conventional cytogenetic and CGH array were performed.
Results:
The karyotype showed an apparently balanced translocation. Molecular studies by array-CGH did not show deletions in the FOXL2 gene; however, a novel 63.2 kb deletion involving a non-protein-coding gene (PISRT1) was found.
Conclusions:
The novel deletion found could be involved in FOXL2 regulation and constitutes the smallest deletion described in a female with BPES. In cases of "de novo" apparently balanced translocation, only a 5-6% risk of phenotype alteration is described. Molecular studies can help to discover these alterations and provide insight for genetic counseling.
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