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

Abstract

BACKGROUND

Vesico-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 REPORT

The 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.

CONCLUSIONS

This 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.

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  • Authors+Show Affiliations

    ,

    Division of pediatric surgery, department of pediatrics, obstetrics and reproductive medicine, University of Siena, Siena, Italy. elisabrandigi@gmail.com

    , , , ,

    Source

    Italian journal of pediatrics 39: 2013 Jan 23 pg 6

    MeSH

    Abnormalities, Multiple
    Child
    Chromosome Deletion
    Chromosome Disorders
    Chromosome Duplication
    Chromosomes, Human, Pair 1
    Chromosomes, Human, Pair 18
    Clubfoot
    Face
    Female
    Hernia, Umbilical
    Humans
    Intellectual Disability
    Karyotyping
    Single Umbilical Artery
    Treatment Outcome
    Ultrasonography, Prenatal
    Vesico-Ureteral Reflux

    Pub Type(s)

    Case Reports
    Journal Article
    Review

    Language

    eng

    PubMed ID

    23343423

    Citation

    Brandigi, Elisa, et al. "Chromosome 18q-syndrome and 1p Terminal Duplication in a Patient With Bilateral Vesico-ureteral Reflux: Case Report and Literature Revision." Italian Journal of Pediatrics, vol. 39, 2013, p. 6.
    Brandigi E, Molinaro F, Bulotta AL, et al. Chromosome 18q-syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision. Ital J Pediatr. 2013;39:6.
    Brandigi, E., Molinaro, F., Bulotta, A. L., Angotti, R., Pavone, M., & Messina, M. (2013). Chromosome 18q-syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision. Italian Journal of Pediatrics, 39, p. 6. doi:10.1186/1824-7288-39-6.
    Brandigi E, et al. Chromosome 18q-syndrome and 1p Terminal Duplication in a Patient With Bilateral Vesico-ureteral Reflux: Case Report and Literature Revision. Ital J Pediatr. 2013 Jan 23;39:6. PubMed PMID: 23343423.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Chromosome 18q-syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision. AU - Brandigi,Elisa, AU - Molinaro,Francesco, AU - Bulotta,Anna Lavinia, AU - Angotti,Rossella, AU - Pavone,Maria, AU - Messina,Mario, Y1 - 2013/01/23/ PY - 2012/10/07/received PY - 2013/01/08/accepted PY - 2013/1/25/entrez PY - 2013/1/25/pubmed PY - 2013/9/17/medline SP - 6 EP - 6 JF - Italian journal of pediatrics JO - Ital J Pediatr VL - 39 N2 - BACKGROUND: Vesico-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 REPORT: The 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. CONCLUSIONS: This 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. SN - 1824-7288 UR - https://www.unboundmedicine.com/medline/citation/23343423/Chromosome_18q_syndrome_and_1p_terminal_duplication_in_a_patient_with_bilateral_vesico_ureteral_reflux:_case_report_and_literature_revision_ L2 - https://ijponline.biomedcentral.com/articles/10.1186/1824-7288-39-6 DB - PRIME DP - Unbound Medicine ER -