Proximal trisomy 1q in a girl with developmental delay and minor anomalies
| العنوان: | Proximal trisomy 1q in a girl with developmental delay and minor anomalies |
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| المؤلفون: | Irma Slavutsky, Monica Rittler, Lilian Furforo |
| المصدر: | American Journal of Medical Genetics. 64:551-555 |
| بيانات النشر: | Wiley, 1996. |
| سنة النشر: | 1996 |
| مصطلحات موضوعية: | Developmental Disabilities, Macrocephaly, Trisomy, Anatomy, Biology, medicine.disease, Narrow palate, Palpebral fissure, Chromosomes, Human, Pair 1, Child, Preschool, Karyotyping, Gene duplication, medicine, Humans, Female, Tandem exon duplication, medicine.symptom, Abnormality, Genetics (clinical), Facial symmetry |
| الوصف: | We report on a girl with developmental delay, macrocephaly, facial asymmetry, small downturned palpebral fissures, high and narrow palate, micrognathia, short neck, a heart defect, and unilateral renal agenesis. Cytogenetic analysis showed a proximal tandem duplication of the long arm of chromosome one (1q12--q21.3). This abnormality was suggested by G- and C-banding but it was specifically characterized by fluorescent in situ hybridization (FISH). Clinical findings in our patient are compared with those of the literature in an attempt to delineate the phenotype in patients with proximal 1q duplication. |
| تدمد: | 1096-8628 0148-7299 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55d1e8df084c733bfc457724b6eacd77 https://doi.org/10.1002/(sici)1096-8628(19960906)64:4<551::aid-ajmg5>3.0.co;2-s |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....55d1e8df084c733bfc457724b6eacd77 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10968628 01487299 |
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