A Rare Prenatal Case: Greig Cephalopolysyndactyly Syndrome
Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder characterized by macrocephaly, prominent forehead, hypertelorism, preaxial and/or postaxial polydactyly, and cutaneous syndactyly. Mutations that cause haploinsufficiency in the zinc finger protein family member 3 (GLI3) gene, wh...
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Galenos Publishing House
2024-04-01
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| Series: | Gazi Medical Journal |
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| Online Access: | https://gazimedj.com/articles/a-rare-prenatal-case-greig-cephalopolysyndactyly-syndrome/doi/gmj.2023.4053 |
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| author | Tilbe Hakçıl Gülsüm Kayhan Tuncay Nas Pınar Telli Celtemen Meral Yirmibeş Karaoğuz |
| author_facet | Tilbe Hakçıl Gülsüm Kayhan Tuncay Nas Pınar Telli Celtemen Meral Yirmibeş Karaoğuz |
| author_sort | Tilbe Hakçıl |
| collection | DOAJ |
| description | Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder characterized by macrocephaly, prominent forehead, hypertelorism, preaxial and/or postaxial polydactyly, and cutaneous syndactyly. Mutations that cause haploinsufficiency in the zinc finger protein family member 3 (GLI3) gene, which is located on the short (p) arm p14 region of chromosome 7 (Chr.7), have been associated with this syndrome. Here, a case of prenatal GCPS with haploinsufficiency of the GLI3 gene is presented. A 32-year-old woman, in her 21st week of the first pregnancy, was referred to our center for cytogenetic analysis of amniotic fluid because of the detection of polyhydramnios, polydactyly, aortic stenosis, and the absence of vesica biliaris visualization on fetal ultrasound. Chromosome analysis was terminated with an interstitial short arm (p12-p15.1) deletion of chromosome 7 consisting of the GLI3 gene region (7p14). The presence of the short arm terminal region of the relevant chromosome was confirmed by fluorescence in situ hybridization analysis. Array comparative genomic hybridization technique verified the breakpoint regions and revealed a 17.4 Mb deletion covering the GLI3 gene. To date, reported prenatal cases with GCPS syndrome are very rare. Here we present a case of GCPS syndrome diagnosed in the prenatal period due to a de novo unbalanced chromosomal rearrangement. |
| format | Article |
| id | doaj-art-388ad99a2a804655b39d4b734ee0e606 |
| institution | Kabale University |
| issn | 2147-2092 |
| language | English |
| publishDate | 2024-04-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | Gazi Medical Journal |
| spelling | doaj-art-388ad99a2a804655b39d4b734ee0e6062025-01-17T10:49:25ZengGalenos Publishing HouseGazi Medical Journal2147-20922024-04-0135220821110.12996/gmj.2023.4053A Rare Prenatal Case: Greig Cephalopolysyndactyly SyndromeTilbe Hakçıl0https://orcid.org/0000-0002-1914-1191Gülsüm Kayhan1https://orcid.org/0000-0002-4286-243XTuncay Nas2https://orcid.org/0000-0002-6046-7249Pınar Telli Celtemen3https://orcid.org/0009-0000-4245-4578Meral Yirmibeş Karaoğuz4https://orcid.org/0000-0002-0178-8018Gazi University Faculty of Medicine, Department of Medical Genetics, Ankara, TürkiyeGazi University Faculty of Medicine, Department of Medical Genetics, Ankara, TürkiyeGazi University Faculty of Medicine, Department of Obstetrics and Gynecology, Ankara, TürkiyeGynecology, Obstetrics and IVF Clinic, Ankara, TürkiyeGazi University Faculty of Medicine, Department of Medical Genetics, Ankara, TürkiyeGreig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder characterized by macrocephaly, prominent forehead, hypertelorism, preaxial and/or postaxial polydactyly, and cutaneous syndactyly. Mutations that cause haploinsufficiency in the zinc finger protein family member 3 (GLI3) gene, which is located on the short (p) arm p14 region of chromosome 7 (Chr.7), have been associated with this syndrome. Here, a case of prenatal GCPS with haploinsufficiency of the GLI3 gene is presented. A 32-year-old woman, in her 21st week of the first pregnancy, was referred to our center for cytogenetic analysis of amniotic fluid because of the detection of polyhydramnios, polydactyly, aortic stenosis, and the absence of vesica biliaris visualization on fetal ultrasound. Chromosome analysis was terminated with an interstitial short arm (p12-p15.1) deletion of chromosome 7 consisting of the GLI3 gene region (7p14). The presence of the short arm terminal region of the relevant chromosome was confirmed by fluorescence in situ hybridization analysis. Array comparative genomic hybridization technique verified the breakpoint regions and revealed a 17.4 Mb deletion covering the GLI3 gene. To date, reported prenatal cases with GCPS syndrome are very rare. Here we present a case of GCPS syndrome diagnosed in the prenatal period due to a de novo unbalanced chromosomal rearrangement.https://gazimedj.com/articles/a-rare-prenatal-case-greig-cephalopolysyndactyly-syndrome/doi/gmj.2023.4053chromosome 7gli3 genegreig cephalopolysyndactyly syndromedeletionpolydactylyprenatal |
| spellingShingle | Tilbe Hakçıl Gülsüm Kayhan Tuncay Nas Pınar Telli Celtemen Meral Yirmibeş Karaoğuz A Rare Prenatal Case: Greig Cephalopolysyndactyly Syndrome Gazi Medical Journal chromosome 7 gli3 gene greig cephalopolysyndactyly syndrome deletion polydactyly prenatal |
| title | A Rare Prenatal Case: Greig Cephalopolysyndactyly Syndrome |
| title_full | A Rare Prenatal Case: Greig Cephalopolysyndactyly Syndrome |
| title_fullStr | A Rare Prenatal Case: Greig Cephalopolysyndactyly Syndrome |
| title_full_unstemmed | A Rare Prenatal Case: Greig Cephalopolysyndactyly Syndrome |
| title_short | A Rare Prenatal Case: Greig Cephalopolysyndactyly Syndrome |
| title_sort | rare prenatal case greig cephalopolysyndactyly syndrome |
| topic | chromosome 7 gli3 gene greig cephalopolysyndactyly syndrome deletion polydactyly prenatal |
| url | https://gazimedj.com/articles/a-rare-prenatal-case-greig-cephalopolysyndactyly-syndrome/doi/gmj.2023.4053 |
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