Ring Chromosome 5 in Acute Myeloid Leukemia Defined by Whole-genome Single Nucleotide Polymorphism Array.
10.3343/alm.2012.32.4.307
- Author:
Jungwon HUH
1
;
Yeung Chul MUN
;
Wha Soon CHUNG
;
Chu Myong SEONG
Author Information
1. Department of Laboratory Medicine, Ewha Womans University School of Medicine, Seoul, Korea. JungWonH@ewha.ac.kr
- Publication Type:Case Reports ; Research Support, Non-U.S. Gov't
- Keywords:
Ring;
Chromosome 5;
Single nucleotide polymorphism;
Array;
AML
- MeSH:
Chromosome Deletion;
*Chromosomes, Human, Pair 5;
Humans;
In Situ Hybridization, Fluorescence;
Karyotyping;
Leukemia, Myeloid, Acute/*diagnosis/genetics;
Male;
Metaphase;
Middle Aged;
Oligonucleotide Array Sequence Analysis;
*Polymorphism, Single Nucleotide;
*Ring Chromosomes
- From:Annals of Laboratory Medicine
2012;32(4):307-311
- CountryRepublic of Korea
- Language:English
-
Abstract:
Chromosomes forming a corresponding ring cannot be clearly defined by conventional cytogenetics or FISH. Karyotypic analyses using whole-genome single nucleotide polymorphism arrays (SNP-A) may result in the identification of previously cryptic lesions and allow for more precise definition of breakpoints. We describe a case of AML with metaphase cells bearing -5, del(11)(q22), and +r. With SNP-A, a 5p-terminal deletion (11 megabases [Mb]), a 5q-terminal deletion (27 Mb), an 11q-interstitial deletion (29 Mb), and a 21q gain (3 Mb) were identified. Therefore, the G-banded karyotype was revised as 46, XY, r(5)(p15. 2q33.2), del(11)(q14.1q23.2), dup(21)(q22.13q22.2)[18]/46,XY[2]. SNP-A could be a powerful tool for characterizing ring chromosomes in which the involved chromosomes or bands cannot be precisely identified by conventional cytogenetics or FISH.
