A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype–phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature

Abstract

We report a boy carrying a recombinant chromosome 18, with terminal deletion of 10.8 Mb from 18p11.32 to 18p11.21 and a terminal duplication of 22.8 Mb from 18q21.31 to 18q23, resulting from a maternal pericentric inversion of the chromosome 18. He presented with poor growth, developmental delay, facial dysmorphisms, surgically repaired left cleft lip and palate, a mild form of holoprosencephaly characterized by single central incisor and agenesis of the septum pellucidum, and body asymmetry. Based on the systematic review of the literature, we discuss genotype-phenotype correlation and the risk for the recombinants of pericentric inversions of chromosome 18. © 2016 Wiley Periodicals, Inc.

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

“…2,24 Comparing breakpoints of our patient's chromosomal findings with those closely similar in the literature, we found great variability across clinical features. For instance, our patient has a similar chromosomal rearrangement to the one reported by Lustosa-Mendes et al, 3 but with clinical differences, as shown in ►Supplemental Table S1 (available in the online version). Accurate phenotype description should be provided to compare patients with similar age or at least similar follow-up lapse since the reported cases equally compare toddlers, infants, adults, and even fetuses.…”

“…Inv (18) carriers seem to produce more offspring with inversions than recombinants, with higher frequencies from maternal origin for inversions inheritance and paternal transmission of recombinants. 3 In our patient's family, more siblings have inherited the inversion in chromosome 18 and only one child (proband) has a recombinant, but we lack information about genetic testing of a deceased sibling at 2 months and a miscarriage at 8 weeks reported by the propositus's mother. According to other patients with 18p-/18qþ rearrangements, 1q23(62,142,135-78,013,728)x3 and a deletion at 18p11.…”

“…2 A recent publication of Lustosa-Mendes et al has pinpointed the diversity of clinical findings and chromosomal regions involved in the 18p-/18qþ rearrangements. 3 We report the case of a Peruvian boy who carries a recombinant chromosome 18 arising from the crossing-over during meiosis between normal chromosome 18 and the homolog with pericentric inversion. The boy presents altered phenotype with dysmorphic features and intellectual disability, among others.…”

Prenatal diagnosis of 18p deletion and 8p trisomy syndrome: literature review and report of a novel case

“…A fetus with alobar holoprosengephaly, facial dysmprphism and 18p Deletion syndrome was reported by Chen et al in 2011 [ 25 ]. Holoprosengephaly microforms have been reported in articles by Yank et al, and Luctosa-) [ 29 , 47 ].…”