Molecular cytogenetic characterization of 16p11.2 microdeletions with diverse prenatal phenotypes: Four cases report and literature review
Objective: Chromosome 16p11.2 deletions have been recognized as a genetic disorder with well-described postnatal phenotypes. However, the prenatal manifestations are atypical for lacking of enough evidence. Case report: Four pregnant women underwent amniocentesis for cytogenetic analysis and chromos...
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| Format: | Article |
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Elsevier
2022-05-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S102845592200095X |
| _version_ | 1828793454857027584 |
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| author | Fagui Yue Qi Xi Xinyue Zhang Yuting Jiang Hongguo Zhang Ruizhi Liu |
| author_facet | Fagui Yue Qi Xi Xinyue Zhang Yuting Jiang Hongguo Zhang Ruizhi Liu |
| author_sort | Fagui Yue |
| collection | DOAJ |
| description | Objective: Chromosome 16p11.2 deletions have been recognized as a genetic disorder with well-described postnatal phenotypes. However, the prenatal manifestations are atypical for lacking of enough evidence. Case report: Four pregnant women underwent amniocentesis for cytogenetic analysis and chromosomal microarray analysis (CMA) because of various indications for prenatal diagnosis: prenatal ultrasound abnormalities (cases 1, 2 and 4) and the childbearing history of cerebral palsy child (case 3). No overlapping phenotypes were observed in cases 1, 2 and 4, which might indicate phenotypic diversities in prenatal phenotypes for 16p11.2 microdeletion. All four fetuses showed normal karyotypic results while CMA identified 0.303–0.916 Mb microdeletions of 16p11.2, encompassing BP2–BP3 and BP4–BP5 regions separately. According to the parental CMA verification, case 1 carried a maternal inherited duplication in the region of Xp22.33 and a de novo deletion in the region of Xp21.1. All parents opted for the termination of pregnancies based upon genetic counselling. Conclusion: Our findings enriched the intrauterine phenotypic features of 16p11.2 microdeletions, which would be beneficial for genetic counselling in clinic. In addition, preimplantation genetic testing was recognized as a first-tier approach for such carriers if they intended to conceive again. |
| first_indexed | 2024-12-12T03:28:00Z |
| format | Article |
| id | doaj.art-b3f38962c7944044a6b2f3032fcf7546 |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-12-12T03:28:00Z |
| publishDate | 2022-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-b3f38962c7944044a6b2f3032fcf75462022-12-22T00:39:59ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592022-05-01613544550Molecular cytogenetic characterization of 16p11.2 microdeletions with diverse prenatal phenotypes: Four cases report and literature reviewFagui Yue0Qi Xi1Xinyue Zhang2Yuting Jiang3Hongguo Zhang4Ruizhi Liu5Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, 130021, China; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, 130021, ChinaCenter for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, 130021, China; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, 130021, ChinaCenter for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, 130021, China; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, 130021, ChinaCenter for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, 130021, China; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, 130021, ChinaCenter for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, 130021, China; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, 130021, ChinaCenter for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, 130021, China; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, 130021, China; Corresponding author. Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital, Jilin University, No. 1 Xinmin Street, Changchun, Jilin, 130021, China.Objective: Chromosome 16p11.2 deletions have been recognized as a genetic disorder with well-described postnatal phenotypes. However, the prenatal manifestations are atypical for lacking of enough evidence. Case report: Four pregnant women underwent amniocentesis for cytogenetic analysis and chromosomal microarray analysis (CMA) because of various indications for prenatal diagnosis: prenatal ultrasound abnormalities (cases 1, 2 and 4) and the childbearing history of cerebral palsy child (case 3). No overlapping phenotypes were observed in cases 1, 2 and 4, which might indicate phenotypic diversities in prenatal phenotypes for 16p11.2 microdeletion. All four fetuses showed normal karyotypic results while CMA identified 0.303–0.916 Mb microdeletions of 16p11.2, encompassing BP2–BP3 and BP4–BP5 regions separately. According to the parental CMA verification, case 1 carried a maternal inherited duplication in the region of Xp22.33 and a de novo deletion in the region of Xp21.1. All parents opted for the termination of pregnancies based upon genetic counselling. Conclusion: Our findings enriched the intrauterine phenotypic features of 16p11.2 microdeletions, which would be beneficial for genetic counselling in clinic. In addition, preimplantation genetic testing was recognized as a first-tier approach for such carriers if they intended to conceive again.http://www.sciencedirect.com/science/article/pii/S102845592200095XPrenatal 16p11.2 microdeletionChromosomal microarray analysisPhenotypic diversitiesPreimplantation genetic testing |
| spellingShingle | Fagui Yue Qi Xi Xinyue Zhang Yuting Jiang Hongguo Zhang Ruizhi Liu Molecular cytogenetic characterization of 16p11.2 microdeletions with diverse prenatal phenotypes: Four cases report and literature review Taiwanese Journal of Obstetrics & Gynecology Prenatal 16p11.2 microdeletion Chromosomal microarray analysis Phenotypic diversities Preimplantation genetic testing |
| title | Molecular cytogenetic characterization of 16p11.2 microdeletions with diverse prenatal phenotypes: Four cases report and literature review |
| title_full | Molecular cytogenetic characterization of 16p11.2 microdeletions with diverse prenatal phenotypes: Four cases report and literature review |
| title_fullStr | Molecular cytogenetic characterization of 16p11.2 microdeletions with diverse prenatal phenotypes: Four cases report and literature review |
| title_full_unstemmed | Molecular cytogenetic characterization of 16p11.2 microdeletions with diverse prenatal phenotypes: Four cases report and literature review |
| title_short | Molecular cytogenetic characterization of 16p11.2 microdeletions with diverse prenatal phenotypes: Four cases report and literature review |
| title_sort | molecular cytogenetic characterization of 16p11 2 microdeletions with diverse prenatal phenotypes four cases report and literature review |
| topic | Prenatal 16p11.2 microdeletion Chromosomal microarray analysis Phenotypic diversities Preimplantation genetic testing |
| url | http://www.sciencedirect.com/science/article/pii/S102845592200095X |
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