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

Julio A Poterico1, Flor Vásquez2, Miguel Chávez-Pastor2,3

  • 1Department of Pathology, Instituto Nacional de Enfermedades Neoplásicas, Lima, Perú.

Journal of Pediatric Genetics
|November 17, 2017
PubMed

Insights

Pericentric inversion of chromosome 18 can lead to offspring with recombinant chromosomes and variable clinical features. This case highlights a novel presentation including microscopic hematuria in a patient with an 18p-/18q+ rearrangement.

Area of Science:

  • Genetics
  • Human Genetics
  • Clinical Genetics

Background:

  • Pericentric inversions of chromosome 18 can result in offspring with unbalanced rearrangements (18p-/18q+).
  • These rearrangements are associated with variable clinical manifestations, influenced by factors like the inverted segment's size.

Observation:

  • A Peruvian child presented with dysmorphic features, intellectual disability, persistent microscopic hematuria, and cardiovascular abnormalities (aortic pseudocoarctation, descending aorta arteritis).
  • Family karyotype analysis identified the mother as a carrier of an 18 pericentric inversion: 18[inv(18)(p11.2q21.3)].

Findings:

  • The child carries a recombinant chromosome 18 with both a duplicated region and a deleted segment on the large (q) and short (p) arms, respectively.
  • Chromosomal microarray analysis confirmed these genomic imbalances.

Implications:

  • Persistent microscopic hematuria is a newly observed phenotype in 18p-/18q+ rearrangements.
  • This case suggests that factors beyond simple hemizygosity influence genotype-phenotype correlations in recombinant chromosome 18, potentially related to aging or other unknown elements.

Keywords:
chromosome 18 pericentric inversiongenotype–phenotype correlationhematuriamicroarray analysisrecombinant chromosome 18

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