Many human diseases share a developmental origin that manifests during childhood 
or maturity. Aneuploid syndromes are caused by supernumerary or reduced number 
of chromosomes and represent an extreme example of developmental disease, as 
they have devastating consequences before and after birth. Investigating how 
alterations in gene dosage drive these conditions is relevant because it might 
help treat some clinical aspects. It may also provide explanations as to how 
quantitative differences in gene expression determine phenotypic diversity and 
disease susceptibility among natural populations. Here, we aimed to produce 
induced pluripotent stem cell (iPSC) lines that can be used to improve our 
understanding of aneuploid syndromes. We have generated iPSCs from monosomy X 
[Turner syndrome (TS)], trisomy 8 (Warkany syndrome 2), trisomy 13 (Patau 
syndrome) and partial trisomy 11;22 (Emanuel syndrome), using either skin 
fibroblasts from affected individuals or amniocytes from antenatal diagnostic 
tests. These cell lines stably maintain the karyotype of the donors and behave 
like embryonic stem cells in all tested assays. TS iPSCs were used for further 
studies including global gene expression analysis and tissue-specific directed 
differentiation. Multiple clones displayed lower levels of the pseudoautosomal 
genes ASMTL and PPP2R3B than the controls. Moreover, they could be transformed 
into neural-like, hepatocyte-like and heart-like cells, but displayed 
insufficient up-regulation of the pseudoautosomal placental gene CSF2RA during 
embryoid body formation. These data support that abnormal organogenesis and 
early lethality in TS are not caused by a tissue-specific differentiation 
blockade, but rather involves other abnormalities including impaired 
placentation.