Vertebral fusion in a patient with supernumerary‐der(22)t(11;22) syndrome

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...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2009-08, Vol.149A (8), p.1722-1726
Main Authors: Toyoshima, Mitsuo, Yonee, Chihiro, Maegaki, Yoshihiro, Yamamoto, Toshiyuki, Shimojima, Keiko, Maruyama, Shinsuke, Kawano, Yoshifumi
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Child, Preschool
Chromosomes, Human, Pair 11 - genetics
Chromosomes, Human, Pair 22 - genetics
Comparative Genomic Hybridization
congenital vertebral fusion
Emanuel syndrome
Female
Humans
Infant
Limb Deformities, Congenital - complications
Limb Deformities, Congenital - diagnostic imaging
Male
Medical genetics
Medical sciences
Radiography
Spinal Diseases - complications
Spinal Diseases - diagnostic imaging
Spinal Diseases - genetics
Spinal Fusion
supernumerary‐dert(11
22) syndrome
Syndrome
TBX1
Translocation, Genetic
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32762