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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2022-06-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/bjmg-2021-0025 |
| _version_ | 1797705303053041664 |
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| author | Țuțulan-Cuniță A Pavel AG Dimos L Nedelea M Ursuleanu A Neacșu AT Budișteanu M Stambouli D |
| author_facet | Țuțulan-Cuniță A Pavel AG Dimos L Nedelea M Ursuleanu A Neacșu AT Budișteanu M Stambouli D |
| author_sort | Țuțulan-Cuniță A |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T05:34:09Z |
| format | Article |
| id | doaj.art-19d30e241ad844cabfb5c8b9e2ecb69a |
| institution | Directory Open Access Journal |
| issn | 1311-0160 |
| language | English |
| last_indexed | 2024-03-12T05:34:09Z |
| publishDate | 2022-06-01 |
| publisher | Sciendo |
| record_format | Article |
| series | Balkan Journal of Medical Genetics |
| spelling | doaj.art-19d30e241ad844cabfb5c8b9e2ecb69a2023-09-03T06:32:22ZengSciendoBalkan Journal of Medical Genetics1311-01602022-06-01242718210.2478/bjmg-2021-0025Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of LiteratureȚuțulan-Cuniță A0Pavel AG1Dimos L2Nedelea M3Ursuleanu A4Neacșu AT5Budișteanu M6Stambouli D7Cytogenomic Medical Laboratory, Bucharest, RomaniaCytogenomic Medical Laboratory, Bucharest, RomaniaCytogenomic Medical Laboratory, Bucharest, RomaniaCytogenomic Medical Laboratory, Bucharest, RomaniaObstetrics & Gynecology Clinic, Prof. Dr. Ioan Cantacuzino Clinical Hospital, Bucharest, RomaniaCytogenomic Medical Laboratory, Bucharest, RomaniaPediatric Neurology Clinic, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, Bucharest, RomaniaCytogenomic Medical Laboratory, Bucharest, RomaniaChromosome 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.https://doi.org/10.2478/bjmg-2021-002517q12 microdeletion syndromeautismmulticystic kidneyultrasound markerurinary tract anomalies |
| spellingShingle | Țuțulan-Cuniță A Pavel AG Dimos L Nedelea M Ursuleanu A Neacșu AT Budișteanu M Stambouli D Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature Balkan Journal of Medical Genetics 17q12 microdeletion syndrome autism multicystic kidney ultrasound marker urinary tract anomalies |
| title | Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature |
| title_full | Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature |
| title_fullStr | Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature |
| title_full_unstemmed | Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature |
| title_short | Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature |
| title_sort | phenotypic variability of 17q12 microdeletion syndrome three cases and review of literature |
| topic | 17q12 microdeletion syndrome autism multicystic kidney ultrasound marker urinary tract anomalies |
| url | https://doi.org/10.2478/bjmg-2021-0025 |
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