Partial trisomy 22 resulting from rearrangements between chromosomes 11/22 and 16/22: a report of two cases

Two male infants with partial trisomy 22 resulting from a rearrangement between chromosomes 11/22 and 16/22 were admitted to the Children's Hospital of the University of Leipzig within the space of two months. The characteristic phenotype of the infants is described and compared with the data on liveborn infants with trisomy 22, as reported in the literature. One of the infants reported here showed a prenatally detected hygroma colli. To the best of our knowledge this is the first description of a hygroma colli in this chromosomal disorder. Conclusion: Infants with trisomy 22 can present with variable phenotypes. It is important to bear the phenotype of chromosome 22 infants in mind.