• Berry syndrome: the importance of genetic evaluation before surgical intervention
• Clinical and genetic features of ring chromosome 13 syndrome: an analysis of one case
• Duplication of the ZIC2 gene is not associated with holoprosencephaly
• Isolated trisomy 13 defines a homogeneous AML subgroup with high frequency of mutations in spliceosome genes and poor prognosis
• Maternal origin of 47,XXY and confined placental mosaicism 47,XXY/48,XXY,+13 in an infant conceived through IVF
• New members of the neurexin superfamily: multiple rodent homologues of the human CASPR5 gene
• Sex reversal in a child with duplication of sex reversing locus on the short arm of the X chromosome (Xp)