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Two Portuguese Cochlear Implanted Dizygotic Twins : A Case Report
المؤلفون المشاركون
Matos, Tiago Daniel
Fialho, Graça
Martins, Jorge Humberto
Chora, Joana Rita
Caria, Helena
Simões-Teixeira, Helena
Ferreira, Raquel
Ribeiro, Carlos
Silva, Luís
Alves, Marisa
المصدر
العدد
المجلد 2012، العدد 2012 (31 ديسمبر/كانون الأول 2012)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2012-08-23
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
Individual’s hearing performance after cochlear implant (CI) is variable and depends on different factors such as etiology of deafness, age at implantation, and social/family hearing environment.
Here we report the case of dizygotic twins, boy and girl, presenting with neurosensorial profound deafness prior CI (age of implantation = 3.5 years old).
Both parents have severe/profound deafness, since childhood, and use sign language as primary mode of communication.
Clinical and genetic characterization was performed, as well as the assessment of the auditory and oral (re)habilitation after CI, applying a battery of audiological, speech, and language tests.
The twin girl and the father were homozygous for the c.35delG mutation in the GJB2 gene, while the twin boy and the mother were compound heterozygotes, both monoallelic for c.35delG and for the deletion del(GJB6-D13S1830) in the GJB6 gene.
The remaining hearing impaired relatives were c.35delG homozygotes.
The genetic cause of deafness was thus identified in this family.
Some noteworthy differences were observed regarding twins’ auditory and oral performance after CI.
Subsequent follow-up of these children allowed us to conclude that those differences were most likely due to the different environment in which the twins have been living than to their different GJB2/GJB6 genotypes.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Chora, Joana Rita& Simões-Teixeira, Helena& Matos, Tiago Daniel& Martins, Jorge Humberto& Alves, Marisa& Ferreira, Raquel…[et al.]. 2012. Two Portuguese Cochlear Implanted Dizygotic Twins : A Case Report. Case Reports in Genetics،Vol. 2012, no. 2012, pp.1-5.
https://search.emarefa.net/detail/BIM-485987
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Chora, Joana Rita…[et al.]. Two Portuguese Cochlear Implanted Dizygotic Twins : A Case Report. Case Reports in Genetics No. 2012 (2012), pp.1-5.
https://search.emarefa.net/detail/BIM-485987
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Chora, Joana Rita& Simões-Teixeira, Helena& Matos, Tiago Daniel& Martins, Jorge Humberto& Alves, Marisa& Ferreira, Raquel…[et al.]. Two Portuguese Cochlear Implanted Dizygotic Twins : A Case Report. Case Reports in Genetics. 2012. Vol. 2012, no. 2012, pp.1-5.
https://search.emarefa.net/detail/BIM-485987
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-485987
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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