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. Poterico1, Flor Vásquez2, Miguel Chávez-Pastor2, 3, Milana Trubnykova2, Félix Chavesta2, Jenny Chirinos2, Nancy Salcedo2, Rosmery Mena2, Sulema Cubas2, Rocío González2, Rossana Alvariño2, Hugo Abarca-Barriga2, 4
  • 1Department of Pathology, Instituto Nacional de Enfermedades Neoplásicas, Lima, Perú
  • 2Department of Genetic & Inborn Error Metabolism, Instituto Nacional de Salud del Niño, Breña, Lima, Perú
  • 3Faculty of Human Medicine Alberto Hurtado, Universidad Peruana Cayetano Heredia, Lima, Perú
  • 4Postgraduate Program at Odontopediatrics, Universidad Científica del Sur, Lima, Perú
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.


Supplementary Material