Molecular cytogenetic investigation of a balanced complex chromosomal rearrangement carrier ascertained through a neonate with partial trisomies of 13 and 22.
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.
Park
Ji Kwon
JK
Department of Obstetrics and Gynecology, College of Medicine, Gyeongsang National University, 90 Chilam-dong, Jinju 660-702, South Korea.
Lee
Jae Ik
JI
Jo
Hyun Cheol
HC
Shin
Jeong Kyu
JK
Choi
Won Jun
WJ
Lee
Soon Ae
SA
Lee
Jong Hak
JH
Paik
Won Young
WY
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