title: Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale.
abstract: Advanced high-throughput molecular cytogenetic analysis has enabled the identification of small chromosomal rearrangements, and two or more concurrently occurring chromosomal rearrangements have been identified using this technique. A girl with severe psychomotor developmental delay associated with an uncertain abnormality (detected by conventional karyotyping) in chromosome 10q had a sudden stroke at the age of 35 months. Laboratory and radiographic examinations revealed antithrombin (AT) deficiency and a patent foramen ovale (PFO). Two concurrent chromosomal aberrations, inverted duplication and deletion in the 10q26 region and a microdeletion in the 1q24.2q25.2 region including the AT gene (SERPINC1), were identified by microarray-based comparative genomic hybridization analysis. Both chromosomal aberrations were found to be of paternal origin. This study described the concurrence of chromosomal rearrangements involving two chromosomes, and estimated the frequency of two or more chromosomal aberrations as 2-4%.
authors.affiliation: Department of Pediatrics, Seirei-Mikatahara General Hospital, Hamamatsu, Shizuoka, Japan.
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Kibe
authors.forename: Yuka
authors.initials: Y
authors.lastname: Mori
authors.forename: Tohru
authors.initials: T
authors.lastname: Okanishi
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.forename: Kenji
authors.initials: K
authors.lastname: Yokochi
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
mesh_terms: D000990:Antithrombin III / Q000235:genetics; D020152:Antithrombin III Deficiency / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D002872:Chromosome Deletion; D058674:Chromosome Duplication / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D054092:Foramen Ovale, Patent / Q000235:genetics / Q000473:pathology*; D006801:Humans; D020521:Stroke / Q000235:genetics / Q000473:pathology*
chemical_list: C542513:SERPINC1 protein, human; D000990:Antithrombin III