Zimmermann-Laband syndrome : clinical and cytogenetic study in two related patients

Roderic Mòbil

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Zimmermann-Laband syndrome : clinical and cytogenetic study in two related patients

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dc.contributor.author Shirian, Sadegh es
dc.contributor.author Shahabinejad, Hassan es
dc.contributor.author Saeedzadeh, Abolfazl es
dc.contributor.author Daneshbod, Khosrow es
dc.contributor.author Khosropanah, Hengameh es
dc.contributor.author Mortazavi, Mostafa es
dc.contributor.author Daneshbod, Yahya es
dc.date.accessioned 2019-07-24T11:37:51Z
dc.date.available 2019-07-24T11:37:51Z
dc.date.issued 2019 es
dc.identifier.uri https://hdl.handle.net/10550/71103
dc.description.abstract Zimmermann?Laband Syndrome (ZLS) is an extremely rare autosomal dominant congenital disorder. It is a craniofacial malformation syndrome with predominant intraoral involvement consisting of gingival fibromatosis diffusion in early development. The molecular basis of ZLS is still unknown. Although familial aggregation with different inheritance patterns is detected in ZLS patients, most of the cases are sporadic. We report on two sibling patients with clinical manifestations of ZLS. Blood samples of both patients were obtained in EDTA-tubes followed by performing cytogenetic study using Cyto2.7M array. Analysis of the copy number was performed using the Chromosome Analysis Suite Software (version 1.0.1, annotation file na 30, Affymetrix) and interpreted with recourse to the UCSC genome browser (http://genome.ucsc.edu/; Human Mar. 2006NCBI Build 36.1/hg18 assembly). The array analysis revealed overlapping regions of chromosomal aberrations in both patients. We detected a 258-kb deletion at 3q13.13, a 89-kb duplication at 1q25.2 as well as two 67-kb duplications at 1p12 and 19q12. These altered regions do not contain any known genes and protein-coding sequences. In conclusion, the findings of this report revealed new chromosomal aberrations, including a deletion at 3q13.13 and duplications at 1q25.2, 1p12 and 19q12, in the two patients with ZLS. Such findings indicate that whole genome screening for genomic rearrangements is fruitful in typical and atypical patients with ZLS. es
dc.source Shirian, Sadegh ; Shahabinejad, Hassan ; Saeedzadeh, Abolfazl ; Daneshbod, Khosrow ; Khosropanah, Hengameh ; Mortazavi, Mostafa ; Daneshbod, Yahya. Zimmermann-Laband syndrome : clinical and cytogenetic study in two related patients. En: Journal of Clinical and Experimental Dentistry, 11 5 2019: 452-456 es
dc.title Zimmermann-Laband syndrome : clinical and cytogenetic study in two related patients es
dc.type info:eu-repo/semantics/article en
dc.type info:eu-repo/semantics/publishedVersion en
dc.subject.unesco UNESCO::CIENCIAS MÉDICAS es
dc.identifier.doi 10.4317/jced.55214 es


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Roderic Mòbil