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

González, Rocío; Chirinos, Jenny; Trubnykova, Milana; Chavesta, Félix; Vásquez, Flor; Poterico, Julio A.; Mena, Rosmery; Abarca-Barriga, Hugo; Salcedo, Nancy; Cubas, Sulema; Chávez-Pastor, Miguel; Alvariño, Rossana

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	Thieme Gruppe
dc.relation.ispartofseries	Journal of Pediatric Genetics
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#3.02.03
dc.subject.ocde	https://purl.org/pe-repo/ocde/ford#1.06.07
dc.relation.issn	2146-460X