Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.
Campomelic dysplasia (CD) is a rare skeletal malformation syndrome caused by mutations in the SRY related gene SOX9, mapped to 17q24.3-q25.1. A small proportion of cases are associated with structural rearrangements involving 17q and it has been proposed that this subgroup have a milder phenotype and better prognosis compared to those with mutations in the SOX9 gene. We report a severely affected infant with the acampomelic form of campomelic dysplasia, who died at 11 days and was found to have a de novo reciprocal translocation, 46,XX,t(5;17)(q15;q25.1). This is the second reported case of severe campomelic dysplasia associated with a structural rearrangement involving 17q and suggests that this subgroup of patients may not significantly differ from those without chromosomal rearrangements with regards to phenotype or prognosis.
Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Australia.
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Savarirayan
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D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005260:Female; D006609:High Mobility Group Proteins / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D011379:Prognosis; D011859:Radiography; D055758:SOX9 Transcription Factor; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic
D006609:High Mobility Group Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D014157:Transcription Factors