Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome
| Autor: | Chihiro Yonee, Mitsuo Toyoshima, Yoshifumi Kawano, Keiko Shimojima, Shinsuke Maruyama, Toshiyuki Yamamoto, Yoshihiro Maegaki |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
Adult
Male Adolescent Chromosomes Human Pair 22 Limb Deformities Congenital Chromosome aberration Tendon reflex Translocation Genetic Vertebral fusion Spinal cord compression Genetics medicine Humans Supernumerary Genetics (clinical) Comparative Genomic Hybridization medicine.diagnostic_test business.industry Chromosomes Human Pair 11 Infant Magnetic resonance imaging Syndrome Anatomy medicine.disease Vertebra Radiography Spinal Fusion medicine.anatomical_structure Child Preschool Female Spinal Diseases business Hemivertebrae |
| Zdroj: | American Journal of Medical Genetics Part A. :1722-1726 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.32762 |
| Popis: | A patient with a 47,XX,+der(22)t(11;22)(q23.3;q11.2) karyotype exhibited brisk tendon reflex and Babinski sign with suggested pyramidal sign. A three-dimensional computed tomographic reconstruction revealed a T1-T2 vertebral fusion without hemivertebrae. Sagittal magnetic resonance imaging revealed degenerative disk changes, mild disk herniation, and mild spinal cord compression. Congenital vertebral fusion may be one of the anomalies in supernumerary-der(22)t(11;22) syndrome. Once clinical diagnosis of this chromosome aberration is established, radiologic evaluation of vertebrae and spinal neuroimaging should be performed. © 2009 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text