PMID- 20931537
OWN - NLM
STAT- MEDLINE
DCOM- 20110224
LR  - 20101008
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 27
IP  - 5
DP  - 2010 Oct
TI  - [Analysis of ring chromosome 9 syndrome with fluorescence in situ hybridization].
PG  - 559-62
LID - 10.3760/cma.j.issn.1003-9406.2010.05.018 [doi]
AB  - OBJECTIVE: To investigate the mechanism of the ring chromosome 9 formation by 
      cytogenetic analysis of one case affected with ring chromosome 9 syndrome. 
      METHODS: Routine chromosome GTG-binding analysis and dual-color fluorescence in 
      situ hybridization (FISH) with TelVision 9p and 9q probes were applied to 
      characterize the case. RESULTS: The G-binding revealed that the patient had ring 
      chromosome 9 with the following karyotype: 
      45,X,-9/46,XX,r(9)(p24q34)/46,XX,r(9;9)(p24q34;p24q34)[4/92/4]. The dual-color 
      FISH analysis with TelVision 9p and TelVision 9q probes failed to detect a 
      hybridization signal on the ring chromosome in the case, which indicated that at 
      least 115 kb were deleted on the terminal 9p and 95 kb were deleted on the 
      terminal 9q. Comparing to the cases reported in the literatures, our patient 
      shared some common features of the 9p- and 9q- syndrome. CONCLUSION: The clinical 
      features of patients with identical r(9) breakpoints present variable phenotypes. 
      The possible cause might be the submicroscopic variation in the deletion 
      breakpoints, variation in the ring stability, the modification of the expression 
      of the deleted by the individual's genetic background, or the effect of changes 
      in the fetal environment. The haploinsufficiency of genes located in the deleted 
      regions may play critical roles in the patient phenotype as well.
FAU - Ye, Zhi-chun
AU  - Ye ZC
AD  - Institute of Pediatrics, Children's Hospital of Hunan Province, Changsha, Hunan, 
      P.R. China. greenzhichun@163.com
FAU - Zhu, Xing-yuan
AU  - Zhu XY
FAU - Zhao, Rui
AU  - Zhao R
FAU - He, Xin-yu
AU  - He XY
FAU - Zhang, Hui-jia
AU  - Zhang HJ
FAU - Li, Li-ping
AU  - Li LP
FAU - Zhu, Yi-min
AU  - Zhu YM
LA  - chi
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Chromosome Deletion
MH  - Chromosome Disorders/*genetics
MH  - Chromosomes, Human, Pair 9/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - *Ring Chromosomes
EDAT- 2010/10/12 06:00
MHDA- 2011/02/25 06:00
CRDT- 2010/10/09 06:00
PHST- 2010/10/09 06:00 [entrez]
PHST- 2010/10/12 06:00 [pubmed]
PHST- 2011/02/25 06:00 [medline]
AID - 940627112 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2010.05.018 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Oct;27(5):559-62. doi: 
      10.3760/cma.j.issn.1003-9406.2010.05.018.