Chromosome 18q-Syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision

Abstract

BackgroundVesico-ureteral reflux (VUR) is a dynamic event in which a retrograde flow of urine is present into the upper tracts. VUR may occur isolated or in association with other congenital abnormalities or as part of syndromic entities. We present a patient with a bilateral primary VUR, syndromic disease caused by a large deletion of 18q (18q21.3-qter) and terminal duplication of 1p (1p36.32-p36.33).Case reportThe patient was 8 years old female with a disease including moderate growth retardation, psychomotor retardation, facial dysmorphism, single umbilical artery, umbilical hernia, urachal remnant, bilateral congenital clubfeet and renal-urinary disease. Chromosomal analysis and Array-CGH revealed two heterozygous chromosomal rearrangements: 1p terminal duplication and de novo 18q terminal deletion. She referred to our clinic to evaluation of bilateral hydronephrosis and right renal cortex thinning. Voiding cystourethrography demonstrated bilateral grade IV VUR and dimercaptosuccinic acid renal scintigraphy confirmed right renal cortex thinning and showed a cortical uptake of 75% of the left kidney and 25% of the right kidney. The patient underwent ureterovesical reimplantation after failure of 3 endoscopic submeatal Deflux injections with VUR resolution.ConclusionsThis is the first report involving a patient with 18q-syndrome and contemporary presence of 1p chromosomal terminal duplication. The coexistence of two chromosomal rearrangements complicates the clinical picture and creates a chimeric disorder (marked by characteristics of both chromosomal anomalies). Kidney problems, primarily VUR is reported in 15% of patients affected by 18-q syndrome and no cases is reported in the literature regarding a correlation between VUR and 1p36 chromosomal duplication.

Case report of individual with cutaneous immunodeficiency and novel 1p36 duplication

“…The duplications within the 1p36 region have been previously reported in the patients with variable clinical phenotypes including, but not limited to: atrial septal defects, delayed gross motor development, mental retardation, microcephaly, craniosynostosis, minor facial anomalies, patent ductus arteriosus, transient hypogammaglobulinemia, and seizures. 4 , 5 However, the specific duplicated sequences between 1p36.11–p36.21, 4p16.1, and 9p24.3 found in our patient have not been reported elsewhere. The comparisons of gene expression in skin samples between our patient and a control subject revealed 82 genes with at least 1.5-fold difference in levels of expression.…”

Case report of a novel phenotype in 18q deletion syndrome

“…The 18q deletion syndrome is sometimes called 18q- syndrome, de Grouchy syndrome or monosomy 18q and was first described in 1963 by the French geneticist Jean de Grouchy [ 9 ]. Although patients with deletions of the long arm of chromosome 18 display a wide range of phenotypic traits, there are enough similarities to define the loss of part of chromosome 18q as a syndrome [ 10 ]. Therefore, most people with 18q deletion syndrome are missing a different, but often overlapping, portion of chromosome 18 [ 11 ].…”

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

“…, em estudo com S. cerevisiae, mostraram que o gene TXNL4A (Thioredoxin like 4A; MIM 608572; chr18:79972220-79988591)que tem 66% de identidade com o gene Dib1 de S. cerevisae)codifica uma proteína chamada Dib1, estritamente necessária para o splicing do pré-mRNA. Mutações nesse gene são responsáveis pela síndrome de Burn-McKeown ou displasia oculootofacial (MIM 608572), condiçãoautossômica recessiva caracterizada pela associação de anomalias craniofaciais como fendas palpebrais estreitas, coloboma de pálpebras inferiores, ponte nasal alta, atresia de coanas, orelhas proeminentes, apêndices pré-auriculares, além de perda auditiva mista, anomalias cardíacas e baixa estatura, quadro não observado no paciente P137255 .A deleção 18q (MIM 601808) foi descrita por de Grouchy et al em 1964256 e desde então mais de 350 relatos permitiram ampla caracterização dessa condição253,[258][259][260][261][262][263] . Sua incidência é estimada em 1 para 40.000 nascimentos, ocorrendo em ambos os sexos e diversas…”