22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation
Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is characterized by global developmental delay, absent or delayed speech, generalized hypotonia, and minor physical anomalies. The deletion typically involves the terminal band 22q13.3 and has been associated with both familial and d...
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| Format: | Article |
| Language: | English |
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Cukurova University
2015-03-01
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| Series: | Çukurova Üniversitesi Tıp Fakültesi Dergisi |
| Subjects: | |
| Online Access: | http://www.scopemed.org/fulltextpdf.php?mno=163580 |
| _version_ | 1828023943504592896 |
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| author | ilknur Erol Ozge Surmeli Onay Zerrin Yilmaz Ozge Ozer Fusun Alehan Feride iffet sahin |
| author_facet | ilknur Erol Ozge Surmeli Onay Zerrin Yilmaz Ozge Ozer Fusun Alehan Feride iffet sahin |
| author_sort | ilknur Erol |
| collection | DOAJ |
| description | Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is characterized by global developmental delay, absent or delayed speech, generalized hypotonia, and minor physical anomalies. The deletion typically involves the terminal band 22q13.3 and has been associated with both familial and de-novo translocations. We report the case of an 11-year-old Turkish girl with 22q13.3 deletion syndrome presenting with repeated seizures during the course of a rubella infection. We also review the clinical features of 22q13.3 deletion syndrome and emphasize the importance of considering a rare microdeletion syndrome for idiopathic mental retardation when results of a routine karyotype analysis are normal. To the best of our knowledge, this is the first reported case of a Turkish patient with isolated 22q13.3 deletion syndrome. [Cukurova Med J 2015; 40(1.000): 169-173] |
| first_indexed | 2024-04-10T12:36:15Z |
| format | Article |
| id | doaj.art-5f993c9a596c4a26b452f433d2f1a53b |
| institution | Directory Open Access Journal |
| issn | 0250-5150 |
| language | English |
| last_indexed | 2024-04-10T12:36:15Z |
| publishDate | 2015-03-01 |
| publisher | Cukurova University |
| record_format | Article |
| series | Çukurova Üniversitesi Tıp Fakültesi Dergisi |
| spelling | doaj.art-5f993c9a596c4a26b452f433d2f1a53b2023-02-15T16:14:34ZengCukurova UniversityÇukurova Üniversitesi Tıp Fakültesi Dergisi0250-51502015-03-0140116917316358022q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardationilknur Erol0Ozge Surmeli OnayZerrin YilmazOzge OzerFusun AlehanFeride iffet sahinBaskent University Faculty of Medicine, Department of Pediatrics, Neurology Division, Adana, TurkeyPhelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is characterized by global developmental delay, absent or delayed speech, generalized hypotonia, and minor physical anomalies. The deletion typically involves the terminal band 22q13.3 and has been associated with both familial and de-novo translocations. We report the case of an 11-year-old Turkish girl with 22q13.3 deletion syndrome presenting with repeated seizures during the course of a rubella infection. We also review the clinical features of 22q13.3 deletion syndrome and emphasize the importance of considering a rare microdeletion syndrome for idiopathic mental retardation when results of a routine karyotype analysis are normal. To the best of our knowledge, this is the first reported case of a Turkish patient with isolated 22q13.3 deletion syndrome. [Cukurova Med J 2015; 40(1.000): 169-173]http://www.scopemed.org/fulltextpdf.php?mno=16358022q13.3 deletion syndromeAphasiaEpilepsyMental retardation |
| spellingShingle | ilknur Erol Ozge Surmeli Onay Zerrin Yilmaz Ozge Ozer Fusun Alehan Feride iffet sahin 22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation Çukurova Üniversitesi Tıp Fakültesi Dergisi 22q13.3 deletion syndrome Aphasia Epilepsy Mental retardation |
| title | 22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation |
| title_full | 22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation |
| title_fullStr | 22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation |
| title_full_unstemmed | 22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation |
| title_short | 22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation |
| title_sort | 22q13 3 deletion syndrome an underdiagnosed cause of mental retardation |
| topic | 22q13.3 deletion syndrome Aphasia Epilepsy Mental retardation |
| url | http://www.scopemed.org/fulltextpdf.php?mno=163580 |
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