Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta

摘要: We report a sibling-pair and 4-year old child from two families with an atypical presentation in Osteogenesis imperfecta (OI). In the sib-pair, older sibling initially came to medical attention due fracture history (Patient 1) she was shown have COL1A2 mutation. addition, also had developmental delay, facial dysmorphism, of frequent infections which led search for alternate diagnosis. ArrayCGH revealed 4.3 Mb duplication on chromosome 19q13.42q13.43, confirmed by FISH analysis. On further familial analysis, younger who no previous found mutation tested positive 19q13.42q13.43 2). The 19q13 appears be cause intellectual disability these siblings but given that this is chromosomal duplication, it still possible there as yet unidentified may account combined phenotype family. Patient 3 presenting femoral fracture, blue sclerae, joint hypermobility. Genetic analyses 8.8 Mb deletion 11q24.2q25, G-band discuss differing phenotypes patients OI stress need consider ancillary investigations individuals heterogeneous phenotypic symptoms, not entirely attributable OI.