<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>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.</p>
</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.

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

Victor Babes National Institute of Pathology

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Chromosome 17q12 microdeletion syndrome is a contiguous gene deletion syndrome caused by an 1–2 Mb loss, characterized by multicystic dysplastic kidneys or...

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

Article Category: Case Report

Publicado en línea: 05 jun 2022

Páginas: 71 - 82

DOI: https://doi.org/10.2478/bjmg-2021-0025

Palabras clave
17q12 microdeletion syndrome, autism, multicystic kidney, ultrasound marker, urinary tract anomalies

© 2021 A Țuțulan-Cuniță et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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

Article Category: Case Report

Publicado en línea: 05 jun 2022

Páginas: 71 - 82

DOI: https://doi.org/10.2478/bjmg-2021-0025

Palabras clave17q12 microdeletion syndrome, autism, multicystic kidney, ultrasound marker, urinary tract anomalies

© 2021 A Țuțulan-Cuniță et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Palabras clave
17q12 microdeletion syndrome, autism, multicystic kidney, ultrasound marker, urinary tract anomalies