Phenotypic Variability of 17q12 Microdeletion Syndrome - Three Cases and Review of Literature

Overview

Journal Balkan J Med Genet

Publisher Sciendo

Specialty Genetics

Date 2022 Oct 17

PMID 36249519

Authors

A Tutulan-Cunita

A G Pavel

L Dimos

M Nedelea

A Ursuleanu

A T Neacsu

M Budisteanu

D Stambouli

Affiliations

Soon will be listed here.

Abstract

Chromosome 17q12 microdeletion syndrome is a contiguous gene deletion syndrome caused by an 1-2 Mb loss, characterized by multicystic dysplastic kidneys or other urinary system anomalies starting in utero, including autism or maturity-onset diabetes of the young in its postnatal phenotype. Here, we report on three cases (two prenatal and one postnatal) with distinct and novel clinical presentations as compared with a large number of reviewed patients, thus emphasizing the phenotypic variability of this syndrome and the consequent difficulties in genetic counselling. Prenatal hyperechogenic multicystic kidneys, as well as other urinary tract anomalies, should be considered a marker, therefore indicating the necessity of comprehensive genetic testing, and autism should also be acknowledged as a possible clinical presentation, postnatally.

Citing Articles

Prenatal diagnosis of 17q12 copy number variants in fetuses via chromosomal microarray analysis - A retrospective cohort study and literature review.

Huang R, Ma C, Chen H, Fu F, Han J, Liu L Heliyon. 2024; 10(17):e36558.

PMID: 39286125 PMC: 11402952. DOI: 10.1016/j.heliyon.2024.e36558.

17q12 Microdeletion Syndrome as a Rare Cause of Elevated Liver Enzymes: Case Report and Literature Review.

Isa H, Salman Jr L, Almaa Jr Z, Busehail M, Alherz Z Cureus. 2023; 14(12):e32233.

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