Mosaic trisomy 22 is rare, but can be compatible with prolonged life. Patients with mosaic trisomy 22 usually present with intrauterine growth retardation, mental retardation, failure to thrive, and craniofacial asymmetry. We report the case of a five-year-old boy who had a birth weight of 3.8 kg and normal developmental milestones. He presented with unilateral ocular manifestations of ptosis, double elevator palsy, high myopia, and choroidal coloboma involving the macula. Cytogenetic evaluation showed a low level of trisomy 22 in peripheral blood lymphocytes (1 in 100) and in cultured fibroblasts from a conjunctival biopsy of the affected eye (1 in 60). Our case demonstrates the value of chromosomal analysis of the tissues involved rather than just karyotyping of the blood lymphocytes to detect mosaicism in patients with localised and unilateral congenital malformations.

No abstract

The Galapagos sea lion (Zalophus wollebaeki) is an endemic pinniped to the Galapagos archipelago, and like most wild mammals, is at risk for anemia due to trauma, infectious disease, and poor nutrition. This study evaluated the health status of 26 juvenile Galapagos sea lions on the island of San Cristobal prior to evaluating 100 crossmatch combinations. On evaluation, all but one sea lion had no major systemic abnormalities. Of the 100 crossmatches performed, 23% had minor reactions. The most significant reaction was weak macroscopic agglutination found in 4% of samples. The small percentage of agglutination reactions suggests a small proportion of naturally occurring alloantibodies in this species and may be consistent with a low risk of acute immune-mediated hemolytic transfusion reaction.

In collaboration with the American College of Veterinary Pathologists