X linked recessive idiopathic hypoparathyroidism (HPT) has been observed in two kindreds from Missouri, USA. Affected subjects, who are males, suffer from infantile onset of epilepsy and hypocalcaemia, which appears to be the result of an isolated congenital defect of parathyroid gland development; females are not affected and are normocalcaemic. The gene causing HPT has been previously mapped ...

The duplication of chromosome 3q is a rare disorder with varying chromosomal breakpoints and consequently symptoms. Even rarer is the unbalanced outcome from a parental inv(3) resulting in duplicated 3q and a deletion of 3p. Molecular karyotyping should aid in precisely determining the length and breakpoints of the 3q+/3p- so as to better understand a child's future development and needs. We re...

Note 3q27 rearrangements occur in distinct clinicopathological entities of B-cell non Hodgkin lymphoma (NHL), including diffuse large cell lymphoma (DLCL), follicle centre cell lymphoma (FCCL) and marginal zone B-cell lymphoma (MZBCL) in the REAL classification; very rare cases were also reported with mantle cell lymphoma and chronic lymphocytic leukemia. 3q27 breaks are usually, but not invari...