Inherited pericentric inversion of chromosome 5: a family with history of neonatal death and a case of the ‘cri du chat’ syndrome

摘要

Only a few families have been recorded in which an inherited pericentric inversion has been shown to give rise to a chromosome with a duplication-deletion in a child with congenital malformations. This family, with a pericentric inversion of chromosome 5, was ascertained through a child with the “cri du chat” syndrome. Although no other cases of this syndrome were identified in the family, there was a history of neonatal death as well as infertility. Banding studies with the fluorescent and trypsin/Giemsa techniques showed the inverted segment to be large. None of the biochemical markers studied segregated with the marker chromos