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.

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32762DOI Listing

Publication Analysis

Top Keywords

vertebral fusion
12
supernumerary-der22t1122 syndrome
8
fusion patient
4
patient supernumerary-der22t1122
4
syndrome patient
4
patient 47xx+der22t1122q233q112
4
47xx+der22t1122q233q112 karyotype
4
karyotype exhibited
4
exhibited brisk
4
brisk tendon
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!