Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2
Copy number variations (CNVs) in chromosome 16p11.2 (deletions and duplications) are not rare. 16p11.2 microdeletion is among the most commonly known genetic etiologies of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. Here, we report the prenatal diagnosis and g...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2022-07-01
|
| Series: | Journal of International Medical Research |
| Online Access: | https://doi.org/10.1177/03000605221109400 |
| _version_ | 1811322883482320896 |
|---|---|
| author | Meihua Li Linlin Liu Yijun Wu Jian Guan |
| author_facet | Meihua Li Linlin Liu Yijun Wu Jian Guan |
| author_sort | Meihua Li |
| collection | DOAJ |
| description | Copy number variations (CNVs) in chromosome 16p11.2 (deletions and duplications) are not rare. 16p11.2 microdeletion is among the most commonly known genetic etiologies of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. Here, we report the prenatal diagnosis and genetic counseling of a maternally inherited 16p11.2 microdeletion. In this family, the mother and fetus both have a normal phenotype and the same microdeletion. Following the use of molecular genetic techniques, including array-based methods, the number of reported cases has rapidly increased. The combination of prenatal ultrasound, karyotype analysis, chromosomal microarray analysis (CMA), and genetic counseling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications. |
| first_indexed | 2024-04-13T13:44:05Z |
| format | Article |
| id | doaj.art-fa4970c300a24ad2900c54744910cd55 |
| institution | Directory Open Access Journal |
| issn | 1473-2300 |
| language | English |
| last_indexed | 2024-04-13T13:44:05Z |
| publishDate | 2022-07-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | Journal of International Medical Research |
| spelling | doaj.art-fa4970c300a24ad2900c54744910cd552022-12-22T02:44:33ZengSAGE PublishingJournal of International Medical Research1473-23002022-07-015010.1177/03000605221109400Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2Meihua LiLinlin LiuYijun WuJian GuanCopy number variations (CNVs) in chromosome 16p11.2 (deletions and duplications) are not rare. 16p11.2 microdeletion is among the most commonly known genetic etiologies of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. Here, we report the prenatal diagnosis and genetic counseling of a maternally inherited 16p11.2 microdeletion. In this family, the mother and fetus both have a normal phenotype and the same microdeletion. Following the use of molecular genetic techniques, including array-based methods, the number of reported cases has rapidly increased. The combination of prenatal ultrasound, karyotype analysis, chromosomal microarray analysis (CMA), and genetic counseling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications.https://doi.org/10.1177/03000605221109400 |
| spellingShingle | Meihua Li Linlin Liu Yijun Wu Jian Guan Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2 Journal of International Medical Research |
| title | Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2 |
| title_full | Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2 |
| title_fullStr | Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2 |
| title_full_unstemmed | Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2 |
| title_short | Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2 |
| title_sort | prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11 2 |
| url | https://doi.org/10.1177/03000605221109400 |
| work_keys_str_mv | AT meihuali prenataldiagnosisandmolecularcytogeneticcharacterizationofaninheritedmicrodeletionofchromosome16p112 AT linlinliu prenataldiagnosisandmolecularcytogeneticcharacterizationofaninheritedmicrodeletionofchromosome16p112 AT yijunwu prenataldiagnosisandmolecularcytogeneticcharacterizationofaninheritedmicrodeletionofchromosome16p112 AT jianguan prenataldiagnosisandmolecularcytogeneticcharacterizationofaninheritedmicrodeletionofchromosome16p112 |