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Molecular cytogenetic investigation of a balanced complex chromosomal rearrangement carrier ascertained through a neonate with partial trisomies of 13 and 22
Author(s) -
Park Ji Kwon,
Lee Jae Ik,
Jo Hyun Cheol,
Shin Jeong Kyu,
Choi Won Jun,
Lee Soon Ae,
Lee Jong Hak,
Paik Won Young
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31782
Subject(s) - fluorescence in situ hybridization , comparative genomic hybridization , biology , chromosomal rearrangement , fish <actinopterygii> , karyotype , chromosome , genetics , phenotype , abnormality , high resolution , medicine , gene , fishery , remote sensing , psychiatry , geology
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. © 2007 Wiley‐Liss, Inc.