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A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria

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dc.contributor.author Poterico, Julio A.
dc.contributor.author Vásquez, Flor
dc.contributor.author Chávez-Pastor, Miguel
dc.contributor.author Trubnykova, Milana
dc.contributor.author Chavesta, Félix
dc.contributor.author Chirinos, Jenny
dc.contributor.author Salcedo, Nancy
dc.contributor.author Mena, Rosmery
dc.contributor.author Cubas, Sulema
dc.contributor.author González, Rocío
dc.contributor.author Alvariño, Rossana
dc.contributor.author Abarca-Barriga, Hugo
dc.date.accessioned 2019-01-25T16:59:36Z
dc.date.available 2019-01-25T16:59:36Z
dc.date.issued 2016
dc.identifier.uri https://hdl.handle.net/20.500.12866/4866
dc.description.abstract Chromosome 18 pericentric inversion carriers could have offspring with recombinant chromosomes, leading to patients with clinical variable manifestations. Patients with 18p-/18q+ rearrangements share some clinical characteristics, while other characteristics differ. Factors for such divergence include the length of the inverted segment, among others. Here, we describe a Peruvian child with dysmorphic features, intellectual disability persistent microscopic hematuria, aortic pseudocoarctation, and descending aorta arteritis, among others. Karyotype analysis of family members determined the mother as the carrier of a pericentric inversion: 18[inv(18)(p11.2q21.3)]. This child carries a recombinant chromosome 18, with chromosomal microarray analysis detecting two genomic imbalances in patient's chromosome 18: one duplicated region and one deleted segment in the large and the short arms, respectively. Persistent microscopic hematuria has not been reported among 18p-/18q+ phenotypes. Our patient elucidates that other factors play significant and yet unknown roles for not fulfilling the proposed genotype-phenotype correlation associated with hemizygosity in this type of recombinant chromosome 18 or presenting these features as the patient ages. en_US
dc.language.iso eng
dc.publisher IOS Press
dc.relation.ispartof urn:issn:2146-460X
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject chromosome 18 pericentric inversion en_US
dc.subject genotype-phenotype correlation en_US
dc.subject hematuria en_US
dc.subject microarray analysis en_US
dc.subject recombinant chromosome 18 en_US
dc.title A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1055/s-0037-1604099
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.02.00 es_PE

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