A Case of Pericentric Inversion of Chromosome 5(p15.1q11.2 )

ABSTRACT

Pericentric inversion of chromosome 5 is a rare chromosomal aberration, which has familial inheritance in a few cases. Many reports demonstrated that the phenotype is similar to the criduchat syndrome. There are many problems regarding the clinical significance for genetic counseling and parental diagnosis. The authors encountered a male neonate who presented clinodactyly, campylodactyly, closed fists with 4th and 5th fingers overlapping the index and 3rd fingers, simian crease, the dorsiflexed 2nd toes, and poor sucking power, but without other characteristics of Edwards syndrome or cri-du-chat syndrome. Chrornosome studies from peripheral blood showed a 46, XY,inv(5)(p15.1q11.2) karyotype. We report the first case of pericentric inversion of chromosome 5 in Korea with a review of literature.