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.
Department of Pediatrics, Kagoshima University, Kagoshima City, Japan. toyoshim@m2.kufm.kagoshima-u.ac.jp
Mitsuo
M
Toyoshima
Chihiro
C
Yonee
Yoshihiro
Y
Maegaki
Toshiyuki
T
Yamamoto
Keiko
K
Shimojima
Shinsuke
S
Maruyama
Yoshifumi
Y
Kawano
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