Recombination of a maternal pericentric inversion results in 22q13 deletion syndrome.
We describe a 10-month-old boy with 22q13 deletion syndrome. Chromosomal analysis showed a partial duplication of 22p11.2-pter and a terminal deletion of 22q13.31-qter. Maternal chromosomal analysis showed a pericentric inversion of chromosome 22, with breakpoints at p11.2 and q13.31 [inv(22)(p11.2q13.31)]. The deleted chromosome resulted from a recombinant chromosome inherited from his mother. This is a rare case of 22q13 deletion syndrome associated with parental pericentric inversion of chromosome 22.
Tagaya
Mitsuhiko
M
Department of Neonatology, Toyota Memorial Hospital, Toyota Maternity and Perinatal Care Center, Nagoya University Hospital, Nagoya, Japan Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi.
Mizuno
Seiji
S
Hayakawa
Masahiro
M
Yokotsuka
Taro
T
Shimizu
Satoko
S
Fujimaki
Hidehiko
H
D002871:Chromosome Banding; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D007621:Karyotyping; D011995:Recombination, Genetic