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 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.
Toyoshima
Mitsuo
M
Department of Pediatrics, Kagoshima University, Kagoshima City, Japan. toyoshim@m2.kufm.kagoshima-u.ac.jp
Yonee
Chihiro
C
Maegaki
Yoshihiro
Y
Yamamoto
Toshiyuki
T
Shimojima
Keiko
K
Maruyama
Shinsuke
S
Kawano
Yoshifumi
Y
D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000150:complications / Q000000981:diagnostic imaging; D008297:Male; D011859:Radiography; D013122:Spinal Diseases / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D013123:Spinal Fusion; D013577:Syndrome; D014178:Translocation, Genetic