دورية أكاديمية
Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome
| العنوان: | Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome |
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| المؤلفون: | M. Abreu-González, C. García-Delgado, A. Cervantes, A. Aparicio-Onofre, R. Guevara-Yáñez, R. Sánchez-Urbina, M. P. Gallegos-Arreola, A. Luna-Angulo, F. J. Estrada, V. F. Morán-Barroso |
| المصدر: | Case Reports in Genetics, Vol 2013 (2013) |
| بيانات النشر: | Hindawi Limited, 2013. |
| سنة النشر: | 2013 |
| المجموعة: | LCC:Genetics |
| مصطلحات موضوعية: | Genetics, QH426-470 |
| الوصف: | Chromosomal abnormalities that result in genomic imbalances are a major cause of congenital and developmental anomalies. Partial duplication of chromosome 3q syndrome is a well-described condition, and the phenotypic manifestations include a characteristic facies, microcephaly, hirsutism, synophrys, broad nasal bridge, congenital heart disease, genitourinary disorders, and mental retardation. Approximately 60%–75% of cases are derived from a balanced translocation. We describe a family with a pure typical partial trisomy 3q syndrome derived from a maternal balanced translocation t(3;13)(q26.2;p11.2). As the chromosomal rearrangement involves the short arm of an acrocentric chromosome, the phenotype corresponds to a pure trisomy 3q26.2-qter syndrome. There are 4 affected individuals and several carriers among three generations. The report of this family is relevant because there are few cases of pure duplication 3q syndrome reported, and the cases described here contribute to define the phenotype associated with the syndrome. Furthermore, we confirmed that the survival until adulthood is possible. This report also identified the presence of glycosaminoglycans in urine in this family, not related to the chromosomal abnormality or the phenotype. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2090-6544 2090-6552 |
| العلاقة: | https://doaj.org/toc/2090-6544Test; https://doaj.org/toc/2090-6552Test |
| DOI: | 10.1155/2013/895259 |
| الوصول الحر: | https://doaj.org/article/1b995f1c27b94acea0ba53d9932a67eaTest |
| رقم الانضمام: | edsdoj.1b995f1c27b94acea0ba53d9932a67ea |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 20906544 20906552 |
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| DOI: | 10.1155/2013/895259 |