HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASES
Objective: Holoprosencephaly (HPE) is the most common developmental defect of midline cleavage in the human forebrain. Environmental, genetic, and multifactorial causes are involved in its etiology. About half of the cases have chromosome aberrations such as trisomies 13 and 18, triploidy and struct...
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Istanbul University Press
2021-04-01
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| Series: | İstanbul Tıp Fakültesi Dergisi |
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| Online Access: | https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/3CE0FA3B55434B07BA562737147BDE79 |
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| author | Birsen Karaman Selvi Ergin Hülya Kayserili Karabey Atıl Yüksel Nihan Bilge Satkın İbrahim Halil Kalelioğlu Recep Has Seher Başaran |
| author_facet | Birsen Karaman Selvi Ergin Hülya Kayserili Karabey Atıl Yüksel Nihan Bilge Satkın İbrahim Halil Kalelioğlu Recep Has Seher Başaran |
| author_sort | Birsen Karaman |
| collection | DOAJ |
| description | Objective: Holoprosencephaly (HPE) is the most common developmental defect of midline cleavage in the human forebrain. Environmental, genetic, and multifactorial causes are involved in its etiology. About half of the cases have chromosome aberrations such as trisomies 13 and 18, triploidy and structural imbalances. Single gene mutations have been shown in ~25% of cases. In this retrospective study, we aimed to determine the etiological factors related to HPE in 127 fetuses. Material and Method: This study comprises 127 prenatally diagnosed fetal HPE samples from a period of 25 years, which were evaluated by karyotyping, fluorescence in situ hybridization (FISH) and aCGH investigation. Results: A total of 64 (50.39%) chromosome aberrations were identified in this cohort. The predominant chromosomal abnormality was trisomy 13 (n=38), which was followed by trisomy 18 (n=8) and triploidy (n=5). Terminal 7q deletion was the most frequent structural anomaly (n=10, of which 5 were de novo deletion, 4 were an unbalanced product of maternal translocations and one unknown in origin) and the deletion of 18p was detected in one case. In the remaining two cases, we detected trisomy 20 and pericentric inversion 11 coincidentally. Conclusion: This study, indicates that in the presence of clinical findings suggesting HPE, cytogenetic and molecular cytogenetic studies should be performed. An aCGH study must also be done for submicroscopic chromosomal anomalies, to determine their sizes, real breakpoints and identify possible novel genes that might play a role in HPE etiology. |
| format | Article |
| id | doaj-art-515c363ddfe346c1bd6c29042d40d5f5 |
| institution | DOAJ |
| issn | 1305-6441 |
| language | English |
| publishDate | 2021-04-01 |
| publisher | Istanbul University Press |
| record_format | Article |
| series | İstanbul Tıp Fakültesi Dergisi |
| spelling | doaj-art-515c363ddfe346c1bd6c29042d40d5f52025-08-20T02:57:43ZengIstanbul University Pressİstanbul Tıp Fakültesi Dergisi1305-64412021-04-0184218619110.26650/IUITFD.2020.0071123456HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASESBirsen Karaman0https://orcid.org/0000-0001-8640-0176Selvi Ergin1https://orcid.org/0000-0002-5817-624XHülya Kayserili Karabey2https://orcid.org/0000-0003-0376-499XAtıl Yüksel3https://orcid.org/0000-0002-6487-0860Nihan Bilge Satkın4https://orcid.org/0000-0003-2257-4294İbrahim Halil Kalelioğlu5https://orcid.org/0000-0002-5504-2166Recep Has6https://orcid.org/0000-0002-1372-8506Seher Başaran7https://orcid.org/0000-0001-8668-4746İstanbul Üniversitesi, İstanbul, Türkiyeİstanbul Üniversitesi, İstanbul, Türkiyeİstanbul Üniversitesi, İstanbul, Türkiyeİstanbul Üniversitesi, İstanbul, Türkiyeİstanbul Üniversitesi, İstanbul, Türkiyeİstanbul Üniversitesi, İstanbul, Türkiyeİstanbul Üniversitesi, İstanbul, Türkiyeİstanbul Üniversitesi, İstanbul, TürkiyeObjective: Holoprosencephaly (HPE) is the most common developmental defect of midline cleavage in the human forebrain. Environmental, genetic, and multifactorial causes are involved in its etiology. About half of the cases have chromosome aberrations such as trisomies 13 and 18, triploidy and structural imbalances. Single gene mutations have been shown in ~25% of cases. In this retrospective study, we aimed to determine the etiological factors related to HPE in 127 fetuses. Material and Method: This study comprises 127 prenatally diagnosed fetal HPE samples from a period of 25 years, which were evaluated by karyotyping, fluorescence in situ hybridization (FISH) and aCGH investigation. Results: A total of 64 (50.39%) chromosome aberrations were identified in this cohort. The predominant chromosomal abnormality was trisomy 13 (n=38), which was followed by trisomy 18 (n=8) and triploidy (n=5). Terminal 7q deletion was the most frequent structural anomaly (n=10, of which 5 were de novo deletion, 4 were an unbalanced product of maternal translocations and one unknown in origin) and the deletion of 18p was detected in one case. In the remaining two cases, we detected trisomy 20 and pericentric inversion 11 coincidentally. Conclusion: This study, indicates that in the presence of clinical findings suggesting HPE, cytogenetic and molecular cytogenetic studies should be performed. An aCGH study must also be done for submicroscopic chromosomal anomalies, to determine their sizes, real breakpoints and identify possible novel genes that might play a role in HPE etiology.https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/3CE0FA3B55434B07BA562737147BDE79holoprosencephalyhpe#mim 236100nervous system malformationsprenatal diagnosis |
| spellingShingle | Birsen Karaman Selvi Ergin Hülya Kayserili Karabey Atıl Yüksel Nihan Bilge Satkın İbrahim Halil Kalelioğlu Recep Has Seher Başaran HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASES İstanbul Tıp Fakültesi Dergisi holoprosencephaly hpe #mim 236100 nervous system malformations prenatal diagnosis |
| title | HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASES |
| title_full | HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASES |
| title_fullStr | HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASES |
| title_full_unstemmed | HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASES |
| title_short | HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASES |
| title_sort | holoprosencephaly chromosomal abnormalities in the etiopathogenesis of 127 antenatal cases |
| topic | holoprosencephaly hpe #mim 236100 nervous system malformations prenatal diagnosis |
| url | https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/3CE0FA3B55434B07BA562737147BDE79 |
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