Academic Journal
12p13 rearrangements: 6 Mb deletion responsible for ID/MCA and reciprocal duplication without clinical responsibility
| العنوان: | 12p13 rearrangements: 6 Mb deletion responsible for ID/MCA and reciprocal duplication without clinical responsibility |
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| المؤلفون: | Madrigal, Irene, Martinez, Margarita, Rodriguez‐Revenga, Laia, Carrió, Ana, Milà, Montserrat |
| المصدر: | American Journal of Medical Genetics Part A ; volume 158A, issue 5, page 1071-1076 ; ISSN 1552-4825 1552-4833 |
| بيانات النشر: | Wiley |
| سنة النشر: | 2012 |
| المجموعة: | Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: | Congenital balanced reciprocal translocations are one of the most frequent structural chromosomal aberrations in the population. We report a familial translocation t(12;22)(p13.3;pter) responsible for intellectual disabilities and congenital anomalies characterized by FISH and array CGH. Two patients carried a der(12)t(12;22)(p13.3;pter), resulting in a 6 Mb 12pter deletion. Patients presented with intellectual disabilities, pre‐ and post‐natal growth retardation, ponderal development delay, global hypotonia, feeding problems and dysmorphic features. Two relatives presented with the reciprocal 12pter duplication, which had no clinical manifestations associated. For this translocation, we propose a mechanism based on a non‐allelic recombination model, in which recombination of direct oriented segmental duplications between non‐homologous chromatids leads to the reciprocal translocation. The characterization of this translocation has been critical for the family. Translocation carriers have a risk of 40% of having offspring carrying unbalanced products. 12p13.3 deletion carriers present with a recognizable syndrome and on the contrary, 12p13.3 duplication carriers present without clinical manifestations. Other published cases of 12p13.3 duplication show that this syndrome has a variable phenotype. It is advisable to delineate the duplication size and to discard other genetic aberrations, in order to give an accurate genetic counseling in patients carrying 12pter duplications. © 2012 Wiley Periodicals, Inc. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1002/ajmg.a.35287 |
| الاتاحة: | http://dx.doi.org/10.1002/ajmg.a.35287 https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.35287 https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.35287 |
| Rights: | http://onlinelibrary.wiley.com/termsAndConditions#vor |
| رقم الانضمام: | edsbas.A31B2A47 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/ajmg.a.35287 |
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