Upper airway malformation associated with partial trisomy 11q.

11q trisomy is associated with a recognizable pattern of multiple malformations. Review of the literature reveals the following recurrent themes common to complex and isolated 11q trisomy: mental retardation, pre- and postnatal growth retardation, hypotonia, a distinct pattern of facial features, congenital heart defects, and limb malformations. We report four patients with partial trisomy 11q, none of which arose from the common 11/22 translocation. Three of the four patients had the previously unreported finding of upper airway obstruction secondary to a malformed epiglottis. The critical region for this malformation appears to be 11q21-23.2.

Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history.

Over 30 cases of complete non-mosaic trisomy 22 have been reported in the literature in the last 20 years [Crowe et al., 1997: Am J Med Genet 71:406-413]. Twenty-two infants were liveborn with an average life expectancy of four days. Of these, nine survived beyond the first two weeks of life. The life span ranged from minutes to 3 years of age. We report a case of an infant diagnosed prenatally with complete non-mosaic trisomy 22. Options such as aggressive medical/surgical intervention or limiting interventions to symptomatic care including home hospice were discussed openly. Given this information, the family elected to provide minimal supportive measures with pediatric hospice. The infant lived for 2 months with her family before her death. Numerous medical and surgical complications are associated with this disorder. Both the family and the medical team must be prepared for in utero fetal demise, stillbirth, or for limited life expectancy. Proper management, therefore, depends upon an understanding of the diagnosis.