Schizophrenia in an adult with 6p25 deletion syndrome.
Chromosomal deletions at 6p25-p24 are rare findings in patients with developmental delay. There is limited information about the adult phenotype. We present a 36-year-old patient with schizophrenia, mild mental retardation, progressive hearing deficits, and characteristic facial features. Ocular (Ax...
| Asıl Yazarlar: | , , , , , |
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| Materyal Türü: | Journal article |
| Dil: | English |
| Baskı/Yayın Bilgisi: |
2006
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| _version_ | 1826302737536516096 |
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| author | Caluseriu, O Mirza, G Ragoussis, J Chow, E MacCrimmon, D Bassett, A |
| author_facet | Caluseriu, O Mirza, G Ragoussis, J Chow, E MacCrimmon, D Bassett, A |
| author_sort | Caluseriu, O |
| collection | OXFORD |
| description | Chromosomal deletions at 6p25-p24 are rare findings in patients with developmental delay. There is limited information about the adult phenotype. We present a 36-year-old patient with schizophrenia, mild mental retardation, progressive hearing deficits, and characteristic facial features. Ocular (Axenfeld-Rieger anomaly) abnormalities were diagnosed in infancy; vision, however, has remained unimpaired. There were no other major congenital anomalies. Brain imaging showed only minor changes. There was no family history of intellectual deficits or psychosis. Karyotyping revealed a 6p25 deletion, and detailed fluorescence in situ hybridization (FISH) analyses using 23 probes confirmed a 6.7 Mb 6p25-pter deletion. The breakpoint is near a possible 6p25-p24 locus for schizophrenia. Psychotic illness may be part of the neurodevelopmental abnormalities and long-term outcome of patients with 6p terminal deletions. Other similarly affected patients likely remain to be diagnosed in adult populations of schizophrenia and/or mental retardation. |
| first_indexed | 2024-03-07T05:52:06Z |
| format | Journal article |
| id | oxford-uuid:e93e5ea4-509f-496d-9766-a90e70ba97a5 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T05:52:06Z |
| publishDate | 2006 |
| record_format | dspace |
| spelling | oxford-uuid:e93e5ea4-509f-496d-9766-a90e70ba97a52022-03-27T10:52:50ZSchizophrenia in an adult with 6p25 deletion syndrome.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:e93e5ea4-509f-496d-9766-a90e70ba97a5EnglishSymplectic Elements at Oxford2006Caluseriu, OMirza, GRagoussis, JChow, EMacCrimmon, DBassett, AChromosomal deletions at 6p25-p24 are rare findings in patients with developmental delay. There is limited information about the adult phenotype. We present a 36-year-old patient with schizophrenia, mild mental retardation, progressive hearing deficits, and characteristic facial features. Ocular (Axenfeld-Rieger anomaly) abnormalities were diagnosed in infancy; vision, however, has remained unimpaired. There were no other major congenital anomalies. Brain imaging showed only minor changes. There was no family history of intellectual deficits or psychosis. Karyotyping revealed a 6p25 deletion, and detailed fluorescence in situ hybridization (FISH) analyses using 23 probes confirmed a 6.7 Mb 6p25-pter deletion. The breakpoint is near a possible 6p25-p24 locus for schizophrenia. Psychotic illness may be part of the neurodevelopmental abnormalities and long-term outcome of patients with 6p terminal deletions. Other similarly affected patients likely remain to be diagnosed in adult populations of schizophrenia and/or mental retardation. |
| spellingShingle | Caluseriu, O Mirza, G Ragoussis, J Chow, E MacCrimmon, D Bassett, A Schizophrenia in an adult with 6p25 deletion syndrome. |
| title | Schizophrenia in an adult with 6p25 deletion syndrome. |
| title_full | Schizophrenia in an adult with 6p25 deletion syndrome. |
| title_fullStr | Schizophrenia in an adult with 6p25 deletion syndrome. |
| title_full_unstemmed | Schizophrenia in an adult with 6p25 deletion syndrome. |
| title_short | Schizophrenia in an adult with 6p25 deletion syndrome. |
| title_sort | schizophrenia in an adult with 6p25 deletion syndrome |
| work_keys_str_mv | AT caluseriuo schizophreniainanadultwith6p25deletionsyndrome AT mirzag schizophreniainanadultwith6p25deletionsyndrome AT ragoussisj schizophreniainanadultwith6p25deletionsyndrome AT chowe schizophreniainanadultwith6p25deletionsyndrome AT maccrimmond schizophreniainanadultwith6p25deletionsyndrome AT bassetta schizophreniainanadultwith6p25deletionsyndrome |