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

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...

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Bibliographic Details

Published in:	Balkan Journal of Medical Genetics
Main Authors:	Țuțulan-Cuniță A, Pavel AG, Dimos L, Nedelea M, Ursuleanu A, Neacșu AT, Budișteanu M, Stambouli D
Format:	Article
Language:	English
Published:	Sciendo 2022-06-01
Subjects:	17q12 microdeletion syndrome autism multicystic kidney ultrasound marker urinary tract anomalies
Online Access:	https://doi.org/10.2478/bjmg-2021-0025