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

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'

SUBMITTER: Poterico JA 

PROVIDER: S-EPMC5683951 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature