Osteogenesis imperfecta with partial trisomy 15

Abstract

Osteogenesis imperfecta (OI) is the most common genetic cause of osteoporosis, which presents as multiple fractures of bone. Mutations in the loci COL1A1 on band 17q21 and COL1A2 on band 7q22 have been reported as the cause in most cases of OI, but partial trisomy 15 has not been reported previously as a possible cause. A 3-month-old child with OI with an unusual association of partial trisomy 15 is reported.

Figure 1

Multiple deformities of the arms and legs.

Figure 2

Radiograph showing multiple fractures that had occurred at different times within the limbs.

Figure 3

Cytogenetic analysis from peripheral blood of proband, showing trisomy 15 (arrow).

Figure 4

Child’s partial karyotype showing duplication of q15–q20. Abnormal chromosome is on right side of the pair. The segment between the two lines of the p arm of abnormal chromosome is duplicated from the q arm of normal chromosome.