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.
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.
Mitsuhiko
M
Tagaya
Seiji
S
Mizuno
Masahiro
M
Hayakawa
Taro
T
Yokotsuka
Satoko
S
Shimizu
Hidehiko
H
Fujimaki
D002871:Chromosome Banding; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D007621:Karyotyping; D011995:Recombination, Genetic