Academic Journal
Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications
| العنوان: | Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications |
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| المؤلفون: | Lindgren, Valerie, McRae, Anne, Dineen, Richard, Saulsberry, Alexandria, Hoganson, George, Schrift, Michael |
| المصدر: | Molecular Genetics & Genomic Medicine ; volume 3, issue 4, page 346-353 ; ISSN 2324-9269 2324-9269 |
| بيانات النشر: | Wiley |
| سنة النشر: | 2015 |
| المجموعة: | Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: | We describe six individuals with microdeletions and microduplications in the distal 22q11.2 region detected by microarray. Five of the abnormalities have breakpoints in the low‐copy repeats ( LCR ) in this region and one patient has an atypical rearrangement. Two of the six patients with abnormalities in the region between LCR 22 D–E have hearing loss, which has previously been reported only once in association with these abnormalities. We especially note the behavioral/neuropsychiatric problems, including the severity and early onset, in patients with distal 22q11.2 rearrangements. Our patients add to the genotype–phenotype correlations which are still being generated for these chromosomal anomalies. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1002/mgg3.146 |
| الاتاحة: | http://dx.doi.org/10.1002/mgg3.146 https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.146 https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.146 https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.146 |
| Rights: | http://creativecommons.org/licenses/by/4.0/ |
| رقم الانضمام: | edsbas.A9F0274A |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/mgg3.146 |
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