Another patient with 12q13 microduplication
| العنوان: | Another patient with 12q13 microduplication |
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| المؤلفون: | C. Palmieri, Anna Maria Nardone, Stefania Zampatti, Francesca Gullotta, M.R. Abate, Marina Frontali, Antonio Novelli, Viola Alesi, Marta Bertoli |
| المصدر: | American journal of medical genetics. Part A 161 (2013): 2004–2008. doi:10.1002/ajmg.a.35991 info:cnr-pdr/source/autori:Bertoli M.; Alesi V.; Gullotta F.; Zampatti S.; Abate M.R.; Palmieri C.; Novelli A.; Frontali M.; Nardone A.M./titolo:Another patient with 12q13 microduplication/doi:10.1002%2Fajmg.a.35991/rivista:American journal of medical genetics. Part A/anno:2013/pagina_da:2004/pagina_a:2008/intervallo_pagine:2004–2008/volume:161 |
| بيانات النشر: | Wiley, 2013. |
| سنة النشر: | 2013 |
| مصطلحات موضوعية: | Pediatrics, medicine.medical_specialty, Hyperkeratosis, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome 12, Phenocopy, Comparative Genomic Hybridization, Chromosomes, Human, Pair 12, Wolf-Hirschhorn Syndrome, business.industry, medicine.disease, Phenotype, Associated phenotype, Wolf-Hirschhorn syndrome phenocopy, Review Literature as Topic, Homogeneous, Female, 12q13 duplication, Chromosome Deletion, business |
| الوصف: | Interstitial duplication of the long arm of chromosome 12 is a rare cytogenetic condition. While several reports describe distal 12q duplication, only one case report of homogeneous, non-mosaic interstitial 12q13 duplication has been documented to date. The authors of that observation proposed that the associated phenotype represented a phenocopy of Wolf–Hirschhorn syndrome [Dallapiccola et al., 2009]. Only a few other recorded patients with deletion 12q13 → 12q21 involved mosaicism. We describe a new patient with homogeneous 12q13 duplication in a 6-year-old girl who, in early infancy, presented with dysmorphic features suggesting Wolf–Hirschhorn syndrome. What is potentially significant about this patient is that her facial phenotype evolved with age, suggesting a different gestalt in older patients. © 2013 Wiley Periodicals, Inc. |
| تدمد: | 1552-4825 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eff38363dcbb49e786551132b837614fTest https://doi.org/10.1002/ajmg.a.35991Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....eff38363dcbb49e786551132b837614f |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15524825 |
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