PMID- 27218255
OWN - NLM
STAT- MEDLINE
DCOM- 20170718
LR  - 20190213
IS  - 1932-6203 (Electronic)
IS  - 1932-6203 (Linking)
VI  - 11
IP  - 5
DP  - 2016
TI  - Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial 
      Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional 
      Techniques.
PG  - e0154574
LID - 10.1371/journal.pone.0154574 [doi]
LID - e0154574
AB  - Complex chromosome rearrangements (CCRs), which are rather rare in the whole 
      population, may be associated with aberrant phenotypes. Next-generation 
      sequencing (NGS) and conventional techniques, could be used to reveal specific 
      CCRs for better genetic counseling. We report the CCRs of a girl and her mother, 
      which were identified using a combination of NGS and conventional techniques 
      including G-banding, fluorescence in situ hybridization (FISH) and PCR. The girl 
      demonstrated CCRs involving chromosomes 3 and 8, while the CCRs of her mother 
      involved chromosomes 3, 5, 8, 11 and 15. HumanCytoSNP-12 Chip analysis identified 
      a 35.4 Mb duplication on chromosome 15q21.3-q26.2 in the proband and a 1.6 Mb 
      microdeletion at chromosome 15q21.3 in her mother. The proband inherited the 
      rearranged chromosomes 3 and 8 from her mother, and the duplicated region on 
      chromosome 15 of the proband was inherited from the mother. Approximately one 
      hundred genes were identified in the 15q21.3-q26.2 duplicated region of the 
      proband. In particular, TPM1, SMAD6, SMAD3, and HCN4 may be associated with her 
      heart defects, and HEXA, KIF7, and IDH2 are responsible for her developmental and 
      mental retardation. In addition, we suggest that a microdeletion on the 15q21.3 
      region of the mother, which involved TCF2, TCF12, ADMA10 and AQP9, might be 
      associated with mental retardation. We delineate the precise structures of the 
      derivative chromosomes, chromosome duplication origin and possible molecular 
      mechanisms for aberrant phenotypes by combining NGS data with conventional 
      techniques.
FAU - Pan, Qiong
AU  - Pan Q
AD  - Laboratory of Clinical Genetics, Huai'an Maternity and Child Health Care Hospital 
      of Jiangsu Province, Yangzhou University, Huai'an, China.
FAU - Hu, Hao
AU  - Hu H
AD  - Department of Medical Genetics, Hunan Provincial Maternal and Child Health 
      Hospital, Changsha, China.
FAU - Han, Liangrong
AU  - Han L
AD  - Department of Pediatrics, Huai'an Maternity and Child Health Care Hospital of 
      Jiangsu Province, Huai'an, China.
FAU - Jing, Xin
AU  - Jing X
AD  - Laboratory of Clinical Genetics, Huai'an Maternity and Child Health Care Hospital 
      of Jiangsu Province, Yangzhou University, Huai'an, China.
FAU - Liu, Hailiang
AU  - Liu H
AD  - CapitalBio Genomics Co., Ltd, Dongguan, China.
FAU - Yang, Chuanchun
AU  - Yang C
AD  - BGI-Shenzhen, Shenzhen, China.
FAU - Zhang, Fengting
AU  - Zhang F
AD  - Laboratory of Clinical Genetics, Huai'an Maternity and Child Health Care Hospital 
      of Jiangsu Province, Yangzhou University, Huai'an, China.
FAU - Hu, Yue
AU  - Hu Y
AD  - Laboratory of Clinical Genetics, Huai'an Maternity and Child Health Care Hospital 
      of Jiangsu Province, Yangzhou University, Huai'an, China.
FAU - Yue, Hongni
AU  - Yue H
AD  - Department of Pediatrics, Huai'an Maternity and Child Health Care Hospital of 
      Jiangsu Province, Huai'an, China.
FAU - Ning, Ying
AU  - Ning Y
AD  - Laboratory of Clinical Genetics, Huai'an Maternity and Child Health Care Hospital 
      of Jiangsu Province, Yangzhou University, Huai'an, China.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20160524
PL  - United States
TA  - PLoS One
JT  - PloS one
JID - 101285081
SB  - IM
MH  - Adult
MH  - Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - High-Throughput Nucleotide Sequencing/*methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Intellectual Disability/*genetics
MH  - Oligonucleotide Array Sequence Analysis
MH  - Polymorphism, Single Nucleotide
MH  - Sequence Analysis, DNA/*methods
MH  - *Trisomy
PMC - PMC4878739
COIS- Competing Interests: The authors have the following interests: Hailiang Liu is 
      employed by CapitalBio Genomics Co., Ltd. Chuanchun Yang is employed by 
      BGI-Shenzhen. There are no patents, products in development or marketed products 
      to declare. This does not alter the authors' adherence to all the PLOS ONE 
      policies on sharing data and materials.
EDAT- 2016/05/25 06:00
MHDA- 2017/07/19 06:00
PMCR- 2016/05/24
CRDT- 2016/05/25 06:00
PHST- 2015/01/14 00:00 [received]
PHST- 2016/04/16 00:00 [accepted]
PHST- 2016/05/25 06:00 [entrez]
PHST- 2016/05/25 06:00 [pubmed]
PHST- 2017/07/19 06:00 [medline]
PHST- 2016/05/24 00:00 [pmc-release]
AID - PONE-D-15-00933 [pii]
AID - 10.1371/journal.pone.0154574 [doi]
PST - epublish
SO  - PLoS One. 2016 May 24;11(5):e0154574. doi: 10.1371/journal.pone.0154574. 
      eCollection 2016.