Anaesthesia recommendations for Deletion 9p syndrome

In 1973, Alfi et al. reported three infants with partial deletion of the short arm of chromosome 9 distal to band 9p22 who had several clinical features in common. In 1976, after identifying three additional patients with the same chromosomal deletion, this group described the deletion 9p syndrome. The deletion 9p syndrome is very rare. It is estimated to occur in one in 50,000 newborns. Since its first description, well over 100 patients have been described in the literature, but there are likely many more people affected who have either not been diagnosed or not been reported. New cases have been published occasionally that describe new features associated with deletion 9p syndrome. Whether these new features are truly part of the syndrome or only accidentally occur together remains unclear. This syndrome is defined by deletion of the short arm of the 9th chromosome. In most cases, the breakpoint is reported in the bands from 9p21 to 9p24. The majority of cases are de novo deletions, but parental translocations are also reported. The phenotype of deletion 9p is heterogeneous and no clear correlation between breakpoint and clinical features has been established. Common features of the syndrome include mental deficiency, psychomotor and speech delay, craniofacial dysmorphism, and other congenital malformations. The syndrome appears to be balanced between males and females.