Recently, there have been several molecular studies of trisomic fetuses and liveborns which have examined the parent and meiotic stage of origin of nondisjunction. However, little is known about the possible phenotypic effects of the origin of trisomy. For trisomic spontaneous abortions, no distinct phenotype has been described, although some have been reported to have features, such as trophob...

Two unrelated children, not affected with Down's syndrome, with strikingly similar phenotypes and an extra G-like chromosome are presented. Quinacrine and trypsin-Giemsa banding identified the extra chromosome as No. 22. The phenotype of these patients and the review of 15 additional similar cases from the literature permit a definition of the cardinal features of trisomy 22; mental and growth ...

background: to study the outcome of cases with nuchal translucency (nt) ≥ 95th centile in the first trimester of pregnancy. methods: this cross sectional study was performed at iranian fetal medicine foundation (fmf) between january 2009 and december 2011. totally, 186 cases with nt≥ 95th centile who attended for the first trimester screening were studied. all cases with increased nt including ...