title: Molecular cytogenetic investigation of a balanced complex chromosomal rearrangement carrier ascertained through a neonate with partial trisomies of 13 and 22.
abstract: Complex chromosomal rearrangement (CCR) is a structural abnormality of chromosomes that rarely appears in individuals with normal phenotypes. A CCR involving chromosomes 9, 13, and 22 was ascertained in a phenotypically normal woman through a neonate with multiple congenital malformations and partial trisomies of 13 and 22. We diagnosed the CCR using high-resolution chromosome analysis and three-color fluorescence in situ hybridization (three-color FISH) analysis, and ascertained a balanced CCR without cryptic imbalances using array comparative genomic hybridization (array CGH) and FISH. In the present work, we report on the case together with a literature review.
authors.affiliation: Department of Obstetrics and Gynecology, College of Medicine, Gyeongsang National University, 90 Chilam-dong, Jinju 660-702, South Korea.
authors.forename: Ji Kwon
authors.initials: JK
authors.lastname: Park
authors.forename: Jae Ik
authors.initials: JI
authors.lastname: Lee
authors.forename: Hyun Cheol
authors.initials: HC
authors.lastname: Jo
authors.forename: Jeong Kyu
authors.initials: JK
authors.lastname: Shin
authors.forename: Won Jun
authors.initials: WJ
authors.lastname: Choi
authors.forename: Soon Ae
authors.initials: SA
authors.lastname: Lee
authors.forename: Jong Hak
authors.initials: JH
authors.lastname: Lee
authors.forename: Won Young
authors.initials: WY
authors.lastname: Paik
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D020411:Oligonucleotide Array Sequence Analysis; D011247:Pregnancy; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics