Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array
We present a series of microdeletion and microduplication syndromes (MMSs) observed in our clinical practice over a three-year period from 2020 to 2023. Microdeletion and microduplication syndromes, characterized by chromosomal deletions or duplications of less than five megabases, pose challenges i...
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| Format: | Article |
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MDPI AG
2024-03-01
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| Series: | Journal of Personalized Medicine |
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| Online Access: | https://www.mdpi.com/2075-4426/14/3/290 |
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| author | Irina Ioana Iordănescu Andreea Catana Zina Barabas Cuzmici Iuliana Chelu Cristina Dragomir Maria Militaru Emilia Severin Mariela Sanda Militaru |
| author_facet | Irina Ioana Iordănescu Andreea Catana Zina Barabas Cuzmici Iuliana Chelu Cristina Dragomir Maria Militaru Emilia Severin Mariela Sanda Militaru |
| author_sort | Irina Ioana Iordănescu |
| collection | DOAJ |
| description | We present a series of microdeletion and microduplication syndromes (MMSs) observed in our clinical practice over a three-year period from 2020 to 2023. Microdeletion and microduplication syndromes, characterized by chromosomal deletions or duplications of less than five megabases, pose challenges in terms of diagnosis, especially prenatal and clinical management. Clinically, MMSs encompass a broad spectrum of manifestations, ranging from intellectual disability and developmental delays to congenital anomalies, facial dysmorphisms, and neurobehavioral abnormalities. Notable examples include well-characterized syndromes such as DiGeorge syndrome (22q11.2 deletion), Prader–Willi syndrome (15q11–q13 deletion), and Williams syndrome (7q11 deletion). Our study focuses on the genetic foundations and prenatal ultrasound findings of these syndromes, with an emphasis on cases associated with intellectual disability. Using SNP array technology, we delve into the evolving landscape of diagnostic methods, providing a nuanced understanding of copy number variations (CNVs) and their implications. Prenatal diagnosis allows for the early detection of MMSs, enabling parents and healthcare providers to make informed decisions about the pregnancy and plan for appropriate medical care and interventions. Beyond theoretical considerations, our article bridges the gap between research and practical application by offering insights derived from clinical cases. Through the presentation of specific cases, we aim to contribute valuable data to the broader discourse on MMSs, fostering knowledge exchange and enhancing the medical community’s awareness of these complex genetic conditions. |
| first_indexed | 2024-04-24T18:06:29Z |
| format | Article |
| id | doaj.art-edf2dc4c0b684c8ca87c172ee011b3ee |
| institution | Directory Open Access Journal |
| issn | 2075-4426 |
| language | English |
| last_indexed | 2024-04-24T18:06:29Z |
| publishDate | 2024-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Personalized Medicine |
| spelling | doaj.art-edf2dc4c0b684c8ca87c172ee011b3ee2024-03-27T13:50:11ZengMDPI AGJournal of Personalized Medicine2075-44262024-03-0114329010.3390/jpm14030290Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism ArrayIrina Ioana Iordănescu0Andreea Catana1Zina Barabas Cuzmici2Iuliana Chelu3Cristina Dragomir4Maria Militaru5Emilia Severin6Mariela Sanda Militaru7Genetics Department, “Carol Davila” University of Medicine and Pharmacy, 020027 Bucharest, RomaniaGenetics Department Laboratory, Regina Maria, 011736 Bucharest, RomaniaGenetics Department Laboratory, Regina Maria, 011736 Bucharest, RomaniaGenetics Department Laboratory, Regina Maria, 011736 Bucharest, RomaniaGenetics Department Laboratory, Regina Maria, 011736 Bucharest, RomaniaGenetics Department, “Iuliu Hațieganu” University of Medicine and Pharmacy, 400347 Cluj-Napoca, RomaniaGenetics Department, “Carol Davila” University of Medicine and Pharmacy, 020027 Bucharest, RomaniaGenetics Department Laboratory, Regina Maria, 011736 Bucharest, RomaniaWe present a series of microdeletion and microduplication syndromes (MMSs) observed in our clinical practice over a three-year period from 2020 to 2023. Microdeletion and microduplication syndromes, characterized by chromosomal deletions or duplications of less than five megabases, pose challenges in terms of diagnosis, especially prenatal and clinical management. Clinically, MMSs encompass a broad spectrum of manifestations, ranging from intellectual disability and developmental delays to congenital anomalies, facial dysmorphisms, and neurobehavioral abnormalities. Notable examples include well-characterized syndromes such as DiGeorge syndrome (22q11.2 deletion), Prader–Willi syndrome (15q11–q13 deletion), and Williams syndrome (7q11 deletion). Our study focuses on the genetic foundations and prenatal ultrasound findings of these syndromes, with an emphasis on cases associated with intellectual disability. Using SNP array technology, we delve into the evolving landscape of diagnostic methods, providing a nuanced understanding of copy number variations (CNVs) and their implications. Prenatal diagnosis allows for the early detection of MMSs, enabling parents and healthcare providers to make informed decisions about the pregnancy and plan for appropriate medical care and interventions. Beyond theoretical considerations, our article bridges the gap between research and practical application by offering insights derived from clinical cases. Through the presentation of specific cases, we aim to contribute valuable data to the broader discourse on MMSs, fostering knowledge exchange and enhancing the medical community’s awareness of these complex genetic conditions.https://www.mdpi.com/2075-4426/14/3/290microdeletion/microduplication syndromesSNP arrayprenatal genetic diagnosisabnormal ultrasound |
| spellingShingle | Irina Ioana Iordănescu Andreea Catana Zina Barabas Cuzmici Iuliana Chelu Cristina Dragomir Maria Militaru Emilia Severin Mariela Sanda Militaru Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array Journal of Personalized Medicine microdeletion/microduplication syndromes SNP array prenatal genetic diagnosis abnormal ultrasound |
| title | Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array |
| title_full | Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array |
| title_fullStr | Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array |
| title_full_unstemmed | Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array |
| title_short | Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array |
| title_sort | microduplication and microdeletion syndromes diagnosed prenatally using single nucleotide polymorphism array |
| topic | microdeletion/microduplication syndromes SNP array prenatal genetic diagnosis abnormal ultrasound |
| url | https://www.mdpi.com/2075-4426/14/3/290 |
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