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.
Savarirayan
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R
Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Australia.
Bankier
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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