title: Partial monosomy 10q and partial trisomy 9q with anal atresia due to maternal translocation: t(9;10)(q32;q26).
abstract: We report a case of a boy with a partial deletion of the long arm of chromosome 10 and partial duplication of the long arm of chromosome 9 due to maternal balanced translocation. The karyotype was 46,XY,-10, +der(10)t(9;10)(q32;q26)mat. Our patient had imperforate anus and as this finding is usually not observed in association with trisomy 9q, it suggests that partial monosomy of the long arm of chromosome 10 might be associated with anogenital anomalies.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Tottori University, Yonago, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Tsukuda
authors.forename: I
authors.initials: I
authors.lastname: Nagata
authors.forename: H
authors.initials: H
authors.lastname: Sawada
authors.forename: J
authors.initials: J
authors.lastname: Murakami
authors.forename: K
authors.initials: K
authors.lastname: Hanaki
authors.forename: H
authors.initials: H
authors.lastname: Urashima
authors.forename: T
authors.initials: T
authors.lastname: Kaneda
authors.forename: N
authors.initials: N
authors.lastname: Shimizu
authors.forename: N
authors.initials: N
authors.lastname: Kaibara
authors.forename: N
authors.initials: N
authors.lastname: Kodama
authors.forename: T
authors.initials: T
authors.lastname: Ohzeki
authors.forename: K
authors.initials: K
authors.lastname: Shiraki
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001003:Anal Canal / Q000002:abnormalities*; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009006:Monosomy / Q000235:genetics; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000235:genetics