Cytogenetic and Molecular Investigation in Children with Possible Fragile X Syndrome
Objective: Fragile X syndrome (FXS) is the most common cause of inherited mental retardation and is due to a mutation in the X-linked FMR1 gene. Molecular genetic testing and chromosome analysis are indicated for this disorder. In this context, we tried to determine the frequency of the FXS, and oth...
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| Format: | Article |
| Language: | English |
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Cukurova University
2012-04-01
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| Series: | Çukurova Üniversitesi Tıp Fakültesi Dergisi |
| Subjects: | |
| Online Access: | http://www.scopemed.org/fulltextpdf.php?mno=20385 |
| _version_ | 1797910152611889152 |
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| author | Onur Ozer Osman Demirhan Erdal Tunc Huseyin Bagci Dilara Karahan Nilgun Tanriverdi Bertan Yilmaz Ali Irfan Guzel Ibrahim Keser |
| author_facet | Onur Ozer Osman Demirhan Erdal Tunc Huseyin Bagci Dilara Karahan Nilgun Tanriverdi Bertan Yilmaz Ali Irfan Guzel Ibrahim Keser |
| author_sort | Onur Ozer |
| collection | DOAJ |
| description | Objective: Fragile X syndrome (FXS) is the most common cause of inherited mental retardation and is due to a mutation in the X-linked FMR1 gene. Molecular genetic testing and chromosome analysis are indicated for this disorder. In this context, we tried to determine the frequency of the FXS, and other chro¬mosomal abnormalities of Turkish pediatric neurology outpatients. Materials and Methods: Cytogenetic and molecular screenings were performed to esti-mate the prevalence of the fragile X in 107 patients with mental retardation, language disorders, hyperactivity, develop¬mental delay or fragile X syndrome phenotype. Only 26 out of 107 patients were screened, molecularly. Results: Cytogenetically fragile X-positive cells was found in 8 cases (7.5%) of 107 patients; in 4.7% of males and in 2.8% of females. The autosomal fragile sites (FS) was found in 14 (13.1%) cases. One (0.9%) patient had pericentric inversion of chromosome 9. Molecular analysis were performed for 26 patients and all patients showed normal CGG expansion. Conclusion: In diagnosis of fragile X syndrome, chromosome analysis must be run in conjunction with the molecular studies. It is recommended that all members of the fragile X family under risk should be screened both by cytogenetic and molecular methods. Genetic counseling can be useful to patients and families considering genetic testing. [Cukurova Med J 2012; 37(2.000): 76-83] |
| first_indexed | 2024-04-10T11:19:48Z |
| format | Article |
| id | doaj.art-44ac9314a44146dbb00df46b0f64088c |
| institution | Directory Open Access Journal |
| issn | 0250-5150 |
| language | English |
| last_indexed | 2024-04-10T11:19:48Z |
| publishDate | 2012-04-01 |
| publisher | Cukurova University |
| record_format | Article |
| series | Çukurova Üniversitesi Tıp Fakültesi Dergisi |
| spelling | doaj.art-44ac9314a44146dbb00df46b0f64088c2023-02-15T16:18:41ZengCukurova UniversityÇukurova Üniversitesi Tıp Fakültesi Dergisi0250-51502012-04-013727683Cytogenetic and Molecular Investigation in Children with Possible Fragile X SyndromeOnur OzerOsman DemirhanErdal TuncHuseyin BagciDilara KarahanNilgun TanriverdiBertan YilmazAli Irfan GuzelIbrahim KeserObjective: Fragile X syndrome (FXS) is the most common cause of inherited mental retardation and is due to a mutation in the X-linked FMR1 gene. Molecular genetic testing and chromosome analysis are indicated for this disorder. In this context, we tried to determine the frequency of the FXS, and other chro¬mosomal abnormalities of Turkish pediatric neurology outpatients. Materials and Methods: Cytogenetic and molecular screenings were performed to esti-mate the prevalence of the fragile X in 107 patients with mental retardation, language disorders, hyperactivity, develop¬mental delay or fragile X syndrome phenotype. Only 26 out of 107 patients were screened, molecularly. Results: Cytogenetically fragile X-positive cells was found in 8 cases (7.5%) of 107 patients; in 4.7% of males and in 2.8% of females. The autosomal fragile sites (FS) was found in 14 (13.1%) cases. One (0.9%) patient had pericentric inversion of chromosome 9. Molecular analysis were performed for 26 patients and all patients showed normal CGG expansion. Conclusion: In diagnosis of fragile X syndrome, chromosome analysis must be run in conjunction with the molecular studies. It is recommended that all members of the fragile X family under risk should be screened both by cytogenetic and molecular methods. Genetic counseling can be useful to patients and families considering genetic testing. [Cukurova Med J 2012; 37(2.000): 76-83]http://www.scopemed.org/fulltextpdf.php?mno=20385Fragile X syndromeFMR1 genecytogenetic and molecular screenings |
| spellingShingle | Onur Ozer Osman Demirhan Erdal Tunc Huseyin Bagci Dilara Karahan Nilgun Tanriverdi Bertan Yilmaz Ali Irfan Guzel Ibrahim Keser Cytogenetic and Molecular Investigation in Children with Possible Fragile X Syndrome Çukurova Üniversitesi Tıp Fakültesi Dergisi Fragile X syndrome FMR1 gene cytogenetic and molecular screenings |
| title | Cytogenetic and Molecular Investigation in Children with Possible Fragile X Syndrome |
| title_full | Cytogenetic and Molecular Investigation in Children with Possible Fragile X Syndrome |
| title_fullStr | Cytogenetic and Molecular Investigation in Children with Possible Fragile X Syndrome |
| title_full_unstemmed | Cytogenetic and Molecular Investigation in Children with Possible Fragile X Syndrome |
| title_short | Cytogenetic and Molecular Investigation in Children with Possible Fragile X Syndrome |
| title_sort | cytogenetic and molecular investigation in children with possible fragile x syndrome |
| topic | Fragile X syndrome FMR1 gene cytogenetic and molecular screenings |
| url | http://www.scopemed.org/fulltextpdf.php?mno=20385 |
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