Prenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5, 7 and 11 leading to TWIST1 deletion and Saethre-Chotzen syndrome
Objective: Prenatal detection of complex chromosomal rearrangements (CCR) is extremely rare, but is of great clinical importance, since CCR can be causative of different congenital disorders. We present an exceptionally rare case of prenatally diagnosed Saethre-Chotzen syndrome (SCS) rising as a con...
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Elsevier
2025-01-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455924002900 |
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| author | Ivana Joksic Mina Toljic Nela Maksimovic Dijana Perovic Tatjana Damnjanovic Aleksandar Jurisic |
| author_facet | Ivana Joksic Mina Toljic Nela Maksimovic Dijana Perovic Tatjana Damnjanovic Aleksandar Jurisic |
| author_sort | Ivana Joksic |
| collection | DOAJ |
| description | Objective: Prenatal detection of complex chromosomal rearrangements (CCR) is extremely rare, but is of great clinical importance, since CCR can be causative of different congenital disorders. We present an exceptionally rare case of prenatally diagnosed Saethre-Chotzen syndrome (SCS) rising as a consequence of chromothripsis involving chromosomes 5, 7 and 11 and deletion of TWIST1 gene. Case report: Brachycephaly, hypertelorism, flat face, micrognathia, relative macroglossia and small posterior fossa were noted on ultrasound examination at 28th gestational week. Fetal karyotyping revealed de novo translocation 46,XY,t(7;11)(p15.5;q21)dn. Chromosomal microarray showed presence of three microdeletions on chromosome 7 (7p21.1p15.3 including TWIST1, 7p12.1p11.2 and 7q21.11), and one on chromosome 5p12p11. Conclusion: Use of advanced molecular diagnostic techniques in combination with cytogenetic methods allows for precise characterization of CCRs and detection of molecular mechanisms of their origin. Phenomenon of chromothripsis can be causative of rare genetic syndromes such as SCS. |
| format | Article |
| id | doaj-art-b399f7d90ac048c19ad4e93f894305ba |
| institution | Kabale University |
| issn | 1028-4559 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj-art-b399f7d90ac048c19ad4e93f894305ba2025-01-09T06:12:53ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592025-01-01641134137Prenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5, 7 and 11 leading to TWIST1 deletion and Saethre-Chotzen syndromeIvana Joksic0Mina Toljic1Nela Maksimovic2Dijana Perovic3Tatjana Damnjanovic4Aleksandar Jurisic5Gynecology and Obstetrics Clinic “Narodni front”, Belgrade, Serbia; Corresponding author.Gynecology and Obstetrics Clinic “Narodni front”, Belgrade, SerbiaInstitute of Human Genetics, Faculty of Medicine, University of Belgrade, Belgrade, SerbiaInstitute of Human Genetics, Faculty of Medicine, University of Belgrade, Belgrade, SerbiaInstitute of Human Genetics, Faculty of Medicine, University of Belgrade, Belgrade, SerbiaGynecology and Obstetrics Clinic “Narodni front”, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, SerbiaObjective: Prenatal detection of complex chromosomal rearrangements (CCR) is extremely rare, but is of great clinical importance, since CCR can be causative of different congenital disorders. We present an exceptionally rare case of prenatally diagnosed Saethre-Chotzen syndrome (SCS) rising as a consequence of chromothripsis involving chromosomes 5, 7 and 11 and deletion of TWIST1 gene. Case report: Brachycephaly, hypertelorism, flat face, micrognathia, relative macroglossia and small posterior fossa were noted on ultrasound examination at 28th gestational week. Fetal karyotyping revealed de novo translocation 46,XY,t(7;11)(p15.5;q21)dn. Chromosomal microarray showed presence of three microdeletions on chromosome 7 (7p21.1p15.3 including TWIST1, 7p12.1p11.2 and 7q21.11), and one on chromosome 5p12p11. Conclusion: Use of advanced molecular diagnostic techniques in combination with cytogenetic methods allows for precise characterization of CCRs and detection of molecular mechanisms of their origin. Phenomenon of chromothripsis can be causative of rare genetic syndromes such as SCS.http://www.sciencedirect.com/science/article/pii/S1028455924002900ChromothripisisComplex chromosomal rearrangementPrenatal diagnosisSaethre-Chotzen syndromeTWIST1 |
| spellingShingle | Ivana Joksic Mina Toljic Nela Maksimovic Dijana Perovic Tatjana Damnjanovic Aleksandar Jurisic Prenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5, 7 and 11 leading to TWIST1 deletion and Saethre-Chotzen syndrome Taiwanese Journal of Obstetrics & Gynecology Chromothripisis Complex chromosomal rearrangement Prenatal diagnosis Saethre-Chotzen syndrome TWIST1 |
| title | Prenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5, 7 and 11 leading to TWIST1 deletion and Saethre-Chotzen syndrome |
| title_full | Prenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5, 7 and 11 leading to TWIST1 deletion and Saethre-Chotzen syndrome |
| title_fullStr | Prenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5, 7 and 11 leading to TWIST1 deletion and Saethre-Chotzen syndrome |
| title_full_unstemmed | Prenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5, 7 and 11 leading to TWIST1 deletion and Saethre-Chotzen syndrome |
| title_short | Prenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5, 7 and 11 leading to TWIST1 deletion and Saethre-Chotzen syndrome |
| title_sort | prenatal diagnosis of chromothripsis causing complex chromosomal rearrangement involving chromosomes 5 7 and 11 leading to twist1 deletion and saethre chotzen syndrome |
| topic | Chromothripisis Complex chromosomal rearrangement Prenatal diagnosis Saethre-Chotzen syndrome TWIST1 |
| url | http://www.sciencedirect.com/science/article/pii/S1028455924002900 |
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