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Título:
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A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria
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Autores:
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Poterico, Julio A. ;
Vásquez, Flor ;
Chávez-Pastor, Miguel ;
Trubnykova, Milana ;
Chavesta, Félix ;
Chirinos, Jenny ;
Salcedo, Nancy ;
Mena, Rosmery ;
Cubas, Sulema ;
González, Rocío ;
Alvariño, Rossana ;
Abarca-Barriga, Hugo
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Tipo de documento:
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texto impreso
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Editorial:
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IOS Press, 2019-01-25T16:59:36Z
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Nota general:
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info:eu-repo/semantics/restrictedAccess
https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
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Idiomas:
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Inglés
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Palabras clave:
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Editados por otras instituciones
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Artículos
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Artículos en revistas indizadas
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Resumen:
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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.
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En línea:
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http://doi.org/10.1055/s-0037-1604099
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