PMID- 27508004
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20160810
LR  - 20201001
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 9
DP  - 2016
TI  - Identification of small marker chromosomes using microarray comparative genomic 
      hybridization and multicolor fluorescent in situ hybridization.
PG  - 61
LID - 10.1186/s13039-016-0273-5 [doi]
LID - 61
AB  - BACKGROUND: Marker chromosomes are small supernumerary chromosomes that cannot be 
      unambiguously identified by chromosome banding techniques alone. However, the 
      precise characterization of marker chromosomes is important for prenatal 
      diagnosis and proper genetic counseling. In this study, we evaluated the 
      chromosomal origin of marker chromosomes using a combination of banding 
      cytogenetics and molecular cytogenetic techniques including diverse fluorescence 
      in situ hybridization (FISH) assays and array comparative genomic hybridization 
      (array CGH). RESULTS: In a series of 2871 patients for whom cytogenetic analysis 
      was requested, 14 cases with small supernumerary marker chromosomes (sSMCs) were 
      identified. Nine sSMCs were mosaic, and five nonmosaic. Of the nine cases with 
      known parental origins, four were identified as de novo, and four and one were 
      maternally and paternally inherited, respectively. Six sSMCs were identified by 
      FISH using centromeric probes; three sSMCs were derived from chromosome 15, 
      including two heterochromatic sSMC(15)s and a large sSMC(15) spanning 
      15q11.1q13.1, and three sSMCs originated from chromosome 14 or 22. Array CGH 
      revealed two cases with derivatives of chromosome 2 and whole chromosome painting 
      multicolor-FISH (M-FISH) identified three cases with derivatives of chromosome 6, 
      16, and 19, respectively. One maker chromosome in Turner syndrome was 
      characterized as sSMC(X) by preferential application of a centromeric probe for 
      X-chromosome. In addition, one sSMC composed of genomic materials from 
      chromosomes 12 and 18 was identified in parallel with parental karyotype analysis 
      that revealed the reciprocal balanced translocation. CONCLUSIONS: This report is 
      the largest study on sSMCs in Korea and expands the spectrum of sSMCs that are 
      molecularly characterized.
FAU - Jang, Woori
AU  - Jang W
AD  - Department of Laboratory Medicine, College of Medicine, The Catholic University 
      of Korea, Seoul, Korea ; Catholic Genetic Laboratory Center, Seoul St. Mary's 
      Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
FAU - Chae, Hyojin
AU  - Chae H
AD  - Department of Laboratory Medicine, College of Medicine, The Catholic University 
      of Korea, Seoul, Korea ; Catholic Genetic Laboratory Center, Seoul St. Mary's 
      Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea ; 
      Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of 
      Medicine, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul, 
      137-701 Korea.
FAU - Kim, Jiyeon
AU  - Kim J
AD  - Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of 
      Medicine, The Catholic University of Korea, Seoul, Korea.
FAU - Son, Jung-Ok
AU  - Son JO
AD  - Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of 
      Medicine, The Catholic University of Korea, Seoul, Korea.
FAU - Kim, Seok Chan
AU  - Kim SC
AD  - Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of 
      Medicine, The Catholic University of Korea, Seoul, Korea.
FAU - Koo, Bo Kyung
AU  - Koo BK
AD  - Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of 
      Medicine, The Catholic University of Korea, Seoul, Korea.
FAU - Kim, Myungshin
AU  - Kim M
AD  - Department of Laboratory Medicine, College of Medicine, The Catholic University 
      of Korea, Seoul, Korea ; Catholic Genetic Laboratory Center, Seoul St. Mary's 
      Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
FAU - Kim, Yonggoo
AU  - Kim Y
AD  - Department of Laboratory Medicine, College of Medicine, The Catholic University 
      of Korea, Seoul, Korea ; Catholic Genetic Laboratory Center, Seoul St. Mary's 
      Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
FAU - Park, In Yang
AU  - Park IY
AD  - Department of Obstetrics and Gynecology, College of Medicine, The Catholic 
      University of Korea, Seoul, Korea.
FAU - Sung, In Kyung
AU  - Sung IK
AD  - Department of Pediatrics, College of Medicine, The Catholic University of Korea, 
      Seoul, Korea.
LA  - eng
PT  - Journal Article
DEP - 20160808
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC4977864
OTO - NOTNLM
OT  - Array comparative genomic hybridization
OT  - Fluorescence in situ hybridization
OT  - Marker chromosome
EDAT- 2016/08/11 06:00
MHDA- 2016/08/11 06:01
PMCR- 2016/08/08
CRDT- 2016/08/11 06:00
PHST- 2016/04/28 00:00 [received]
PHST- 2016/08/02 00:00 [accepted]
PHST- 2016/08/11 06:00 [entrez]
PHST- 2016/08/11 06:00 [pubmed]
PHST- 2016/08/11 06:01 [medline]
PHST- 2016/08/08 00:00 [pmc-release]
AID - 273 [pii]
AID - 10.1186/s13039-016-0273-5 [doi]
PST - epublish
SO  - Mol Cytogenet. 2016 Aug 8;9:61. doi: 10.1186/s13039-016-0273-5. eCollection 2016.