PMID- 29441129
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220331
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 11
DP  - 2018
TI  - Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual 
      impairment and development delay: report of two cases and review of literature.
PG  - 15
LID - 10.1186/s13039-018-0365-5 [doi]
LID - 15
AB  - BACKGROUND: Small supernumerary marker chromosomes (sSMCs) are common 
      structurally abnormal chromosomes that occur in 0.288% of cases of mental 
      retardation. Isodicentric 15 (idic(15)) is common in sSMCs and usually leads to a 
      rare chromosome disorder with distinctive clinical phenotypes, including early 
      central hypotonia, developmental delay, epilepsy, and autistic behavior. It was 
      previously shown that the partial tetrasomy 15q and partial hexasomy 15q 
      syndromes are usually caused by one and two extra idic(15), respectively. 
      Karyotypes containing a mosaic partial octosomy 15q resulting from three extra 
      idic(15) have rarely been reported. CASE PRESENTATION: Two patients with profound 
      intellectual impairment, development delay and hyperpigmentation were recruited 
      for this study. The phenotype was relatively more severe in patient 1 than in 
      patient 2. Conventional cytogenetic analysis of peripheral blood obtained from 
      patients 1 and 2 revealed rare mosaic karyotypes containing sSMCs, i.e., mos 
      49,XX,+mar x 3[83]/48,XX,+mar x 2[7]/46,XX[10] and mos 
      48,XX,+mar x 2[72]/47,XX,+mar[28], respectively. The results of analyses of copy 
      number variation (CNV) and fluorescence in situ hybridization (FISH) analyses, 
      showed that the sSMCs were found to be idic(15) involving the 
      Prader-Willi/Angelman Syndrome Critical Region (PWACR) genes and the P gene, with 
      duplication sizes of 6.3 Mb and 9.7 Mb, respectively. DNA fingerprinting analysis 
      of patient 1 showed a maternal origin for the idic(15). Both patients had mosaic 
      idic(15) karyotypes: patient 1 had cells with a 15q partial octosomy (83%), and 
      patient 2 had cells with a 15q partial hexasomy (72%). CONCLUSIONS: We detected 
      two rare mosaic idic(15) karyotypes that were associated with congenital 
      abnormalities, including a rare mosaic octosomy of 15q11-q13. Our cases further 
      validate the notion that the phenotypic severity is correlated with the level of 
      mosaicism and the dosage effect of related genes in the proximal 15q.
FAU - Li, Haiyu
AU  - Li H
AD  - 1Institute of Reproduction and Stem Cell Engineering, Central South University, 
      Changsha, Hunan 410078 People's Republic of China. ISNI: 0000 0001 0379 7164. 
      GRID: grid.216417.7
FAU - Du, Juan
AU  - Du J
AD  - 1Institute of Reproduction and Stem Cell Engineering, Central South University, 
      Changsha, Hunan 410078 People's Republic of China. ISNI: 0000 0001 0379 7164. 
      GRID: grid.216417.7
AD  - 2Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078 
      People's Republic of China. ISNI: 0000 0004 1756 593X. GRID: grid.477823.d
FAU - Li, Wen
AU  - Li W
AD  - 1Institute of Reproduction and Stem Cell Engineering, Central South University, 
      Changsha, Hunan 410078 People's Republic of China. ISNI: 0000 0001 0379 7164. 
      GRID: grid.216417.7
AD  - 2Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078 
      People's Republic of China. ISNI: 0000 0004 1756 593X. GRID: grid.477823.d
FAU - Cheng, Dehua
AU  - Cheng D
AD  - 1Institute of Reproduction and Stem Cell Engineering, Central South University, 
      Changsha, Hunan 410078 People's Republic of China. ISNI: 0000 0001 0379 7164. 
      GRID: grid.216417.7
AD  - 2Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078 
      People's Republic of China. ISNI: 0000 0004 1756 593X. GRID: grid.477823.d
FAU - He, Wenbin
AU  - He W
AD  - 1Institute of Reproduction and Stem Cell Engineering, Central South University, 
      Changsha, Hunan 410078 People's Republic of China. ISNI: 0000 0001 0379 7164. 
      GRID: grid.216417.7
AD  - 2Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078 
      People's Republic of China. ISNI: 0000 0004 1756 593X. GRID: grid.477823.d
FAU - Yi, Duo
AU  - Yi D
AD  - 2Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078 
      People's Republic of China. ISNI: 0000 0004 1756 593X. GRID: grid.477823.d
FAU - Xiong, Bo
AU  - Xiong B
AD  - 2Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078 
      People's Republic of China. ISNI: 0000 0004 1756 593X. GRID: grid.477823.d
FAU - Yuan, Shimin
AU  - Yuan S
AD  - 2Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078 
      People's Republic of China. ISNI: 0000 0004 1756 593X. GRID: grid.477823.d
FAU - Tu, Chaofeng
AU  - Tu C
AD  - 1Institute of Reproduction and Stem Cell Engineering, Central South University, 
      Changsha, Hunan 410078 People's Republic of China. ISNI: 0000 0001 0379 7164. 
      GRID: grid.216417.7
FAU - Meng, Lanlan
AU  - Meng L
AD  - 2Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078 
      People's Republic of China. ISNI: 0000 0004 1756 593X. GRID: grid.477823.d
FAU - Luo, Aixiang
AU  - Luo A
AD  - 1Institute of Reproduction and Stem Cell Engineering, Central South University, 
      Changsha, Hunan 410078 People's Republic of China. ISNI: 0000 0001 0379 7164. 
      GRID: grid.216417.7
FAU - Lin, Ge
AU  - Lin G
AD  - 1Institute of Reproduction and Stem Cell Engineering, Central South University, 
      Changsha, Hunan 410078 People's Republic of China. ISNI: 0000 0001 0379 7164. 
      GRID: grid.216417.7
AD  - 2Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078 
      People's Republic of China. ISNI: 0000 0004 1756 593X. GRID: grid.477823.d
FAU - Lu, Guangxiu
AU  - Lu G
AD  - 1Institute of Reproduction and Stem Cell Engineering, Central South University, 
      Changsha, Hunan 410078 People's Republic of China. ISNI: 0000 0001 0379 7164. 
      GRID: grid.216417.7
AD  - 2Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078 
      People's Republic of China. ISNI: 0000 0004 1756 593X. GRID: grid.477823.d
FAU - Tan, Yue-Qiu
AU  - Tan YQ
AUID- ORCID: 0000-0002-8359-4654
AD  - 1Institute of Reproduction and Stem Cell Engineering, Central South University, 
      Changsha, Hunan 410078 People's Republic of China. ISNI: 0000 0001 0379 7164. 
      GRID: grid.216417.7
AD  - 2Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078 
      People's Republic of China. ISNI: 0000 0004 1756 593X. GRID: grid.477823.d
LA  - eng
PT  - Case Reports
DEP - 20180205
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC5799895
OTO - NOTNLM
OT  - Developmental delay
OT  - Hyperpigmentation
OT  - Isodicentric 15
OT  - Mental retardation
OT  - P gene
OT  - Partial octosomy of 15q
COIS- This study was approved by the Institutional Ethics Committee of the Reproductive 
      and Genetic Hospital of Citic-Xiangya, and written informed consent was obtained 
      from all the participants prior to the genetic study.Written informed consent was 
      obtained from the parents of the patients for the publication of this case 
      report.The authors declare that they have no competing interests.Springer Nature 
      remains neutral with regard to jurisdictional claims in published maps and 
      institutional affiliations.
EDAT- 2018/02/15 06:00
MHDA- 2018/02/15 06:01
PMCR- 2018/02/05
CRDT- 2018/02/15 06:00
PHST- 2017/08/28 00:00 [received]
PHST- 2018/01/29 00:00 [accepted]
PHST- 2018/02/15 06:00 [entrez]
PHST- 2018/02/15 06:00 [pubmed]
PHST- 2018/02/15 06:01 [medline]
PHST- 2018/02/05 00:00 [pmc-release]
AID - 365 [pii]
AID - 10.1186/s13039-018-0365-5 [doi]
PST - epublish
SO  - Mol Cytogenet. 2018 Feb 5;11:15. doi: 10.1186/s13039-018-0365-5. eCollection 
      2018.