Familial pericentric inversion incidentally detected at prenatal diagnosis

Abstract

SummaryA case of familial heterozygous pericentric inversion of chromosome 1 [inv(1)(p13q23)] is presented. The inversion was incidentally detected in a fetus whose mother received prenatal chromosomal diagnosis due to her age (40 years old), and thereafter the same inversion was detected in the father whose phenotype was normal. No abnormalities were found in the phenotype of the newborn carrier. Semen analysis of the father revealed normal findings. The couple had no history of spontaneous abortion. Key Wordspericentric inversion, chromosome 1, prenatal diagnosis, semen analysis Pericentric inversion of chromosome 1 is an extremely rare chromosomal rearrangement of which only 16 cases have been reported. Herein, we report a new case of a Japanese family having heterozygous pericentric inversion of chromosome 1, the breakpoints of which were p13 and q23. This is the first case in which pericentric inversion of chromosome 1 was prenatally diagnosed. Case ReportA woman visited our clinic at Tohoku University Hospital for prenatal chromosomal diagnosis of her fetus because of her advanced age (40 years old). It was her first pregnancy. Phenotypes of her and her husband were normal.Amniocentesis was performed at the 16th gestational week and the amniocytes were cultured in Chang's media under 5 % CO 2 in air. The karyotype revealed the fetus to be a heterozygote with an pericentric inversion of chromosome I [46, XY,inv(1)(p13q23)] (Fig. 1). Based on the result, chromosomal examinations of the parents were consequently performed. Fetal blood cell karyotyping was carried out to deny any artifacts. Leukocytes of those samples were cultured in RPMI