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

• Published in: American journal of medical genetics. Part A 2011-01, Vol.155 (1), p.215-220
• Main Authors: Kibe, Tetsuya, Mori, Yuka, Okanishi, Tohru, Shimojima, Keiko, Yokochi, Kenji, Yamamoto, Toshiyuki
• Format: Article
• Language: English
• Subjects: 10q26; 1q24.2q25.2; antithrombin (AT); Antithrombin III - genetics; Antithrombin III Deficiency - genetics; Antithrombin III Deficiency - pathology; array CGH analysis; Biological and medical sciences; Child, Preschool; Chromosome Deletion; Chromosome Duplication - genetics; Chromosomes, Human, Pair 1 - genetics; Chromosomes, Human, Pair 10 - genetics; Classical genetics, quantitative genetics, hybrids; Comparative Genomic Hybridization; concurrent chromosomal aberrations; Female; Foramen Ovale, Patent - genetics; Foramen Ovale, Patent - pathology; Fundamental and applied biological sciences. Psychology; Genetics of eukaryotes. Biological and molecular evolution; Hematologic and hematopoietic diseases; Human; Humans; inv dup del; Medical genetics; Medical sciences; Neurology; patent foramen ovale (PFO); Platelet diseases and coagulopathies; SERPINC1; Stroke - genetics; Stroke - pathology; Vascular diseases and vascular malformations of the nervous system
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.33786

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%. © 2010 Wiley‐Liss, Inc.