Skip to content
Publish & Distribute
Publishing Solutions
Distribution Solutions
Library Services
Subjects
Architecture and Design
Arts
Business and Economics
Chemistry
Classical and Ancient Near Eastern Studies
Computer Sciences
Cultural Studies
Engineering
General Interest
Geosciences
History
Industrial Chemistry
Jewish Studies
Law
Library and Information Science, Book Studies
Life Sciences
Linguistics and Semiotics
Literary Studies
Materials Sciences
Mathematics
Medicine
Music
Pharmacy
Philosophy
Physics
Social Sciences
Sports and Recreation
Theology and Religion
Publications
Journals
Books
Proceedings
Publishers
Journal Matcher
Blog
Contact
Search
English
English
Deutsch
Polski
Español
Français
Italiano
Cart
Home
Journals
Balkan Journal of Medical Genetics
Volume 24 (2021): Issue 2 (November 2021)
Open Access
Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature
A Țuțulan-Cuniță
A Țuțulan-Cuniță
Cytogenomic Medical Laboratory
Bucharest, Romania
Search for this author on
Sciendo
|
Google Scholar
Țuțulan-Cuniță, A
,
AG Pavel
AG Pavel
Cytogenomic Medical Laboratory
Bucharest, Romania
Search for this author on
Sciendo
|
Google Scholar
Pavel, AG
,
L Dimos
L Dimos
Cytogenomic Medical Laboratory
Bucharest, Romania
Search for this author on
Sciendo
|
Google Scholar
Dimos, L
,
M Nedelea
M Nedelea
Cytogenomic Medical Laboratory
Bucharest, Romania
Medical Genetics Department, Carol Davila University of Medicine
Bucharest, Romania
Medical Genetics Department, Filantropia Clinical Hospital
Bucharest, Romania
Search for this author on
Sciendo
|
Google Scholar
Nedelea, M
,
A Ursuleanu
A Ursuleanu
Obstetrics & Gynecology Clinic, Prof. Dr. Ioan Cantacuzino Clinical Hospital
Bucharest, Romania
Search for this author on
Sciendo
|
Google Scholar
Ursuleanu, A
,
AT Neacșu
AT Neacșu
Cytogenomic Medical Laboratory
Bucharest, Romania
Search for this author on
Sciendo
|
Google Scholar
Neacșu, AT
,
M Budișteanu
M Budișteanu
Pediatric Neurology Clinic, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry
Bucharest, Romania
Medical Genetics Laboratory, Victor Babes National Institute of Pathology
Bucharest, Romania
Faculty of Medicine, Titu Maiorescu University
Bucharest, Romania
Search for this author on
Sciendo
|
Google Scholar
Budișteanu, M
and
D Stambouli
D Stambouli
Cytogenomic Medical Laboratory
Bucharest, Romania
Search for this author on
Sciendo
|
Google Scholar
Stambouli, D
Jun 05, 2022
Balkan Journal of Medical Genetics
Volume 24 (2021): Issue 2 (November 2021)
About this article
Previous Article
Next Article
Abstract
Article
Figures & Tables
References
Authors
Articles in this Issue
Preview
PDF
Cite
Share
Download Cover
Article Category:
Case Report
Published Online:
Jun 05, 2022
Page range:
71 - 82
DOI:
https://doi.org/10.2478/bjmg-2021-0025
Keywords
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.
