PMID- 26697114
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20151223
LR  - 20220331
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 8
DP  - 2015
TI  - Copy number changes and methylation patterns in an isodicentric and a ring 
      chromosome of 15q11-q13: report of two cases and review of literature.
PG  - 97
LID - 10.1186/s13039-015-0198-4 [doi]
LID - 97
AB  - BACKGROUND: The low copy repeats (LCRs) in chromosome 15q11-q13 have been 
      recognized as breakpoints (BP) for not only intrachromosomal deletions and 
      duplications but also small supernumerary marker chromosomes 15, sSMC(15)s, in 
      the forms of isodicentric chromosome or small ring chromosome. Further 
      characterization of copy number changes and methylation patterns in these 
      sSMC(15)s could lead to better understanding of their phenotypic consequences. 
      METHODS: Routine G-band karyotyping, fluorescence in situ hybridization (FISH), 
      array comparative genomic hybridization (aCGH) analysis and methylation-specific 
      multiplex ligation-dependent probe amplification (MS-MLPA) assay were performed 
      on two Chinese patients with a sSMC(15). RESULTS: Patient 1 showed an 
      isodicentric 15, idic(15)(q13), containing symmetrically two copies of a 7.7 Mb 
      segment of the 15q11-q13 region by a BP3::BP3 fusion. Patient 2 showed a ring 
      chromosome 15, r(15)(q13), with alternative one-copy and two-copy segments 
      spanning a 12.3 Mb region. The defined methylation pattern indicated that the 
      idic(15)(q13) and the r(15)(q13) were maternally derived. CONCLUSIONS: Results 
      from these two cases and other reported cases from literature indicated that 
      combined karyotyping, aCGH and MS-MLPA analyses are effective to define the copy 
      number changes and methylation patterns for sSMC(15)s in a clinical setting. The 
      characterized genomic structure and epigenetic pattern of sSMC(15)s could lead to 
      further gene expression profiling for better phenotype correlation.
FAU - Wang, Qin
AU  - Wang Q
AD  - Shenzhen Maternity and Child Healthcare Hospital, 3012 Fuqiang Road, Shenzhen, 
      Guangdong China.
FAU - Wu, Weiqing
AU  - Wu W
AD  - Shenzhen Maternity and Child Healthcare Hospital, 3012 Fuqiang Road, Shenzhen, 
      Guangdong China ; Department of Genetics, Yale School of Medicine, New Haven, CT 
      USA.
FAU - Xu, Zhiyong
AU  - Xu Z
AD  - Shenzhen Maternity and Child Healthcare Hospital, 3012 Fuqiang Road, Shenzhen, 
      Guangdong China.
FAU - Luo, Fuwei
AU  - Luo F
AD  - Shenzhen Maternity and Child Healthcare Hospital, 3012 Fuqiang Road, Shenzhen, 
      Guangdong China.
FAU - Zhou, Qinghua
AU  - Zhou Q
AD  - Department of Genetics, Yale School of Medicine, New Haven, CT USA ; First 
      Affiliated Hospital, Biomedical Translational Research Institute, Jinan 
      University, Guangzhou, Guangdong China.
FAU - Li, Peining
AU  - Li P
AD  - Department of Genetics, Yale School of Medicine, New Haven, CT USA.
FAU - Xie, Jiansheng
AU  - Xie J
AD  - Shenzhen Maternity and Child Healthcare Hospital, 3012 Fuqiang Road, Shenzhen, 
      Guangdong China.
LA  - eng
PT  - Journal Article
DEP - 20151221
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC4687147
OTO - NOTNLM
OT  - 15q11-q13
OT  - Array comparative genomic hybridization (aCGH)
OT  - Isodicentric chromosome
OT  - Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA)
OT  - Ring chromosome
EDAT- 2015/12/24 06:00
MHDA- 2015/12/24 06:01
PMCR- 2015/12/21
CRDT- 2015/12/24 06:00
PHST- 2015/08/14 00:00 [received]
PHST- 2015/11/10 00:00 [accepted]
PHST- 2015/12/24 06:00 [entrez]
PHST- 2015/12/24 06:00 [pubmed]
PHST- 2015/12/24 06:01 [medline]
PHST- 2015/12/21 00:00 [pmc-release]
AID - 198 [pii]
AID - 10.1186/s13039-015-0198-4 [doi]
PST - epublish
SO  - Mol Cytogenet. 2015 Dec 21;8:97. doi: 10.1186/s13039-015-0198-4. eCollection 
      2015.