Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion

Abstract

Here, we report on a family with pericentric inversion of chromosome 18 [inv(18)(p11.2q21)] and two recombinants with a duplication of q21 → qter and a deletion of p11.2 → pter regions in a four-generation family. This chromosomal abnormality was inherited in our first patient from the father, while it was transmitted to the second patient from the mother. Array-CGH analysis were used to better characterize duplicated and deleted chromosomal regions and showed no genomic copy number variation (CNV) differences between these two relatives. We discussed genotype-phenotype correlations including previously reported.

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

“…). We selected 18 references for full text assessment, from which 13 studies met our inclusion criteria: [Vianna‐Morgante et al, ; Kukolich et al, ; Teyssier and Bajolle, ; Asano et al, ; Ayukawa et al, ; Israels et al, ; Mejia‐Baltodano et al, ; Leonard et al, ; Roberts et al, ; Vermeulen et al, ; Prontera et al, ; Kariminejad et al, ; Zamani et al, ]. Additionally, four articles were included by manual search [Jacobs et al, ; Turleau and de Grouchy, ; Vigi et al, ; Andrews et al, ].…”

“…The combination of partial trisomy 18q—dup(18q)—and partial monosomy 18p—del(18p)—is rare. To date, only 19 cases resulting from recombination of parental pericentric inversions have been reported [Vianna‐Morgante et al, ; Turleau and de Grouchy, ; Kukolich et al, ; Andrews et al, ; Asano et al, ; Ayukawa et al, ; Israels et al, ; Mejia‐Baltodano et al, ; Leonard et al, ; Roberts et al, ; Vermeulen et al, ; Prontera et al, ; Kariminejad et al, ; Zamani et al, ]. The phenotype of patients carrying a recombinant chromosome 18 with dup(18q) is a mixture of clinical features typical of del(18p) and dup(18q) karyotypes, including developmental delay, intellectual disability of various degrees, facial dysmorphisms, and hand and feet anomalies [Israels et al, ].…”

Caracterização de uma amostra de indivíduos com deficiência intelectual de origem indeterminada

“…Entre os sinais fenotípicos mais comuns, destacam-se atraso de crescimento e fala, DI leve a moderada, estatura baixa, microcefalia, implantação baixa de orelhas, hipertelorismo, ptose palpebral, pregas epicânticas, ponte nasal baixa, peito escavado e alterações visuais. Outros dismorfismos menos comuns são doenças autoimunes, holoprosencefalia, alopecia, distonia, perda auditiva, cifose e/ou escoliose e anormalidades em pés 431,434. Aproximadamente 2/3 dos casos de monossomia 18p são de novo; o restante é devido a rearranjos desbalanceados, cromossomo em anel ou inversão pericêntrica levando à monossomia 18p associada à trissomia 18q [435][436][437] .…”