We report a case of maternal uniparental disomy of chromosome 10 discovered after chorionic villus sampling (CVS). Direct preparations revealed mosaic trisomy 10, while cultured CVS cells, as well as amniotic fluid cells, showed only a normal 46,XY complement. DNA analysis using microsatellite markers showed both chromosomes 10 to have been inherited from the mother. The pregnancy was complicated by polyhydramnios. A phenotypically normal male infant of appropriate size was delivered by Caesarean section at 41 weeks' gestation. Since only the direct preparations showed trisomy 10, this case illustrates the importance of CVS direct preparations in the detection of pregnancies at risk of uniparental disomy (UPD). Although the increased frequency of confined placental mosaicism (CPM) diagnosed when direct preparations are performed has been viewed negatively, identification of both CPM and UPD may have biological and clinical significance for a pregnancy. Even though only a single case of maternal disomy 10 is reported here, the apparently normal phenotype provides evidence that there are no major imprinted loci on chromosome 10 that affect in utero growth and development. However, other potential effects such as mental retardation will require long-term follow-up of this as well as additional cases.

Macaque species serve as important animal models of human infection and immunity. To more fully scrutinize their potential in both the analysis of disease pathogenesis and vaccine development, it is necessary to characterize the Major Histocompatibility Complex (MHC) class I loci of Macaca mulatta (Mamu), Macaca nemestrina (Mane), and Macaca fascicularis (Mafa) at the genomic level. The oligomorphic Mamu-A2*05/Mane-A2*05 (previously known as Mane-A*06) family of macaque MHC-A alleles has recently been shown to be present at high frequency in both Indian rhesus and pig-tailed macaque populations. Using a locus-specific amplification and direct DNA typing methodology, we have additionally found that the locus encoding this family is very prevalent (75%) among a sampling of 182 Chinese rhesus macaques and has a high prevalence (80%) within a larger, independent cohort of 309 pig-tailed macaques. Interestingly, among the Chinese rhesus macaques, only 6 alleles previously identified in Indian-origin animals were observed, while 3 recently identified in Chinese-origin animals and 25 new alleles were characterized. Among the pig-tailed macaques, we observed one previously known (Mane-A*06) and 19 new alleles. Examination of the orthologous locus in a preliminary sampling of 30 cynomolgus macaques revealed an even higher presence (87%) of Mafa-A2*05 family alleles, with 5 previously identified and 15 new ones characterized. The continued discovery of novel alleles and thus further diversity within the Mamu-A2*05/Mane-A2*05/Mafa-A2*05 family indicates that this MHC-A locus, although highly conserved across the three species of macaques, has remained a dynamic entity during evolution.

We report a case of mosaicism for three cell lines: 45,X, 46,XX, and 47,XX,+12, diagnosed prenatally by amniocentesis done for advanced maternal age. Cord blood from the baby showed mosaicism for 45,X and 46,XX; cultures derived from multiple placental sites, villi, cord, membrane, and skin had varying proportions of all three cell lines. The patient at 18 months of age has mild physical dysmorphisms, hypotonia, delay in gross motor development, and age‐appropriate cognitive development. The literature reveals variable outcomes for individuals with either mosaic trisomy 12 or mosaic Turner syndrome. Parental origin of the chromosome involved in a proposed corrected trisomy and/or the percentage of cell types in affected organs might account for the variability in outcomes seen.

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Twenty nine patients with gliomas were