A case with a ring chromosome 22
Ring chromosome 22, a rare cytogenetic finding, was first described in 1968, and since then about 60 patients have been reported. We describe a new patient with ring chromosome 22 syndrome and discuss the common features of the previously reported cases. Our patient had the major features of...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2008-04-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2411 |
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| _version_ | 1849705711970287616 |
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| author | Altuğ Koç Kadri Karaer Mehmet Ali Ergün Meral Yirmibeş-Karaoğuz Derya Kan Ali Cansu Ferda Perçin |
| author_facet | Altuğ Koç Kadri Karaer Mehmet Ali Ergün Meral Yirmibeş-Karaoğuz Derya Kan Ali Cansu Ferda Perçin |
| author_sort | Altuğ Koç |
| collection | DOAJ |
| description |
Ring chromosome 22, a rare cytogenetic finding, was first described in 1968, and since then about 60 patients have been reported. We describe a new patient with ring chromosome 22 syndrome and discuss the common features of the previously reported cases. Our patient had the major features of this syndrome including mental retardation, hypotonia, motor delay, microcephaly, dysplastic large ears, lack of speech, and hyperactivity disorder. Magnetic resonance imaging findings also revealed an arachnoid cyst, found in the posterior cerebellum. In patients with ring chromosome 22, variable clinical manifestations may be seen due to the size of lost sequences near the telomere. By fluorescent in situ hybridization (FISH) technique, LSI DiGeorge/VCFS/ ARSA locus-specific probes are used to detect deleted sequences. We found that 22q11.2 regions were intact on both chromosomes 22, but 22q13.3 (Arylsulfatase A; ARSA region) was absent in the ring chromosome. As far as we know this is the first reported Turkish patient in the literature.
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| format | Article |
| id | doaj-art-d6bf2fb6ed29418fbaf58f215929a4c5 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2008-04-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-d6bf2fb6ed29418fbaf58f215929a4c52025-08-20T03:16:23ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212008-04-01502A case with a ring chromosome 22Altuğ Koç0Kadri KaraerMehmet Ali ErgünMeral Yirmibeş-KaraoğuzDerya KanAli CansuFerda PerçinDepartment of Medical Genetics, Gazi University, Faculty of Medicine, Ankara, Turkey. Ring chromosome 22, a rare cytogenetic finding, was first described in 1968, and since then about 60 patients have been reported. We describe a new patient with ring chromosome 22 syndrome and discuss the common features of the previously reported cases. Our patient had the major features of this syndrome including mental retardation, hypotonia, motor delay, microcephaly, dysplastic large ears, lack of speech, and hyperactivity disorder. Magnetic resonance imaging findings also revealed an arachnoid cyst, found in the posterior cerebellum. In patients with ring chromosome 22, variable clinical manifestations may be seen due to the size of lost sequences near the telomere. By fluorescent in situ hybridization (FISH) technique, LSI DiGeorge/VCFS/ ARSA locus-specific probes are used to detect deleted sequences. We found that 22q11.2 regions were intact on both chromosomes 22, but 22q13.3 (Arylsulfatase A; ARSA region) was absent in the ring chromosome. As far as we know this is the first reported Turkish patient in the literature. https://turkjpediatr.org/article/view/2411 |
| spellingShingle | Altuğ Koç Kadri Karaer Mehmet Ali Ergün Meral Yirmibeş-Karaoğuz Derya Kan Ali Cansu Ferda Perçin A case with a ring chromosome 22 The Turkish Journal of Pediatrics |
| title | A case with a ring chromosome 22 |
| title_full | A case with a ring chromosome 22 |
| title_fullStr | A case with a ring chromosome 22 |
| title_full_unstemmed | A case with a ring chromosome 22 |
| title_short | A case with a ring chromosome 22 |
| title_sort | case with a ring chromosome 22 |
| url | https://turkjpediatr.org/article/view/2411 |
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