J Pediatr Genet 2017; 06(04): 258-266
DOI: 10.1055/s-0037-1604099
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

Julio A. Poterico
Department of Pathology, Instituto Nacional de Enfermedades Neoplásicas, Lima, Perú
,
Flor Vásquez
Department of Genetic & Inborn Error Metabolism, Instituto Nacional de Salud del Niño, Breña, Lima, Perú
,
Miguel Chávez-Pastor
Department of Genetic & Inborn Error Metabolism, Instituto Nacional de Salud del Niño, Breña, Lima, Perú
Faculty of Human Medicine Alberto Hurtado, Universidad Peruana Cayetano Heredia, Lima, Perú
,
Milana Trubnykova
Department of Genetic & Inborn Error Metabolism, Instituto Nacional de Salud del Niño, Breña, Lima, Perú
,
Félix Chavesta
Department of Genetic & Inborn Error Metabolism, Instituto Nacional de Salud del Niño, Breña, Lima, Perú
,
Jenny Chirinos
Department of Genetic & Inborn Error Metabolism, Instituto Nacional de Salud del Niño, Breña, Lima, Perú
,
Nancy Salcedo
Department of Genetic & Inborn Error Metabolism, Instituto Nacional de Salud del Niño, Breña, Lima, Perú
,
Rosmery Mena
Department of Genetic & Inborn Error Metabolism, Instituto Nacional de Salud del Niño, Breña, Lima, Perú
,
Sulema Cubas
Department of Genetic & Inborn Error Metabolism, Instituto Nacional de Salud del Niño, Breña, Lima, Perú
,
Rocío González
Department of Genetic & Inborn Error Metabolism, Instituto Nacional de Salud del Niño, Breña, Lima, Perú
,
Rossana Alvariño
Department of Genetic & Inborn Error Metabolism, Instituto Nacional de Salud del Niño, Breña, Lima, Perú
,
Hugo Abarca-Barriga
Department of Genetic & Inborn Error Metabolism, Instituto Nacional de Salud del Niño, Breña, Lima, Perú
Postgraduate Program at Odontopediatrics, Universidad Científica del Sur, Lima, Perú
› Author Affiliations
Further Information

Publication History

16 February 2017

01 June 2017

Publication Date:
06 July 2017 (eFirst)

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.

Note

Written informed consent was obtained from the patient's mother for publication of this case report and accompanying images.


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