Congenital scoliosis (hemivertebra) associated with de novo balanced reciprocal translocation, 46,XX,t(13;17)(q34;p11.2)

Abstract

We report on an 8-year-old girl with congenital scoliosis (segmented hemivertebra between the second and third lumbar vertebrae) and psychomotor developmental delay. She has a de novo reciprocal translocation, t(13;17)(q34;p11.2). Congenital scoliosis is one type of structural spine deformation and hemivertebra is the most common anomaly causing congenital scoliosis. The cause and the mode of inheritance of hemivertebrae are unknown. Our patient has a de novo balanced chromosome aberration and retains two copies of the LLGL gene, which is usually lacking in patients with Smith-Magenis syndrome (SMS). Since some SMS patients who showed a deletion at 17p11.2 had congenital scoliosis, it is likely that one (17p11.2) of the breakpoints in our patient is a candidate region for a hemivertebra locus.

Prenatal Sonographic Diagnosis of Hemivertebra

“…The distribution pattern of the anomaly does not implicate a specific environmental or genetic factor. 1 Reports of hemivertebrae in monozygotic twins 11 and a relationship to de novo translocation 12 have raised the possibility of a genetic etiology. However, the incidence of aneuploidy in patients with hemivertebrae is considered small.…”

A Case Report of Two Youthful Brothers: The Spine Combines with Multiple Butterfly Vertebrae and Hemivertebrae

“…Butterfly vertebrae are an uncommon congenital anomaly of the spine, which is generally benign. (Imaizumi, K., Masuno, M., Ishii, T., Kuroki, Y., Okuzumi, N., & Nakamura, Y. , 1997). LFNG (a gene) mutations can lead multiple vertebral malformations including hemivertebrae, butterfly vertebrae (Slouma, M., Cheour, E., Sahli, H., & Elleuch, M., 2016).…”

Congenital Hydrocephalus and Hemivertebrae Associated With De NOVO Partial Monosomy 6q (6q25.3→qter)

“…Several chromosome deletions associated with hemivertebrae have previously been reported in earlier studies. These deletions include del(1q4), del(3p2), monosomy 4p, interstitial 5q-deletion, r(15) and interstitial deletion of 17p [ 13 ]. However, more recent studies have shown that the correlation between hemivertebra and chromosomal abnormalities is small.…”