PMID- 11295125
OWN - NLM
STAT- MEDLINE
DCOM- 20010628
LR  - 20061115
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 18
IP  - 2
DP  - 2001 Apr
TI  - [Analysis of a case of balanced chromosome translocation and phenotypic 
      abnormality by fluorescence in situ hybridization].
PG  - 96-9
AB  - OBJECTIVE: To delineate the chromosome structural aberration in a case of 
      chromosome translocation by fluorescence in situ hybridization(FISH) technique 
      and precisely identify the breakpoints. METHODS: The whole chromosome point 
      5(wcp5) and locus- specific probes derived from yeast artificial 
      chromosomes(YACs) mapping the nearby region of breakpoints were used to delineate 
      the translocation t(5;10) found by high resolution G-banding examination in a 
      case with congenital abnormality. RESULTS: A balanced translocation was confirmed 
      and the breakpoints were located in the 1.5 Mb area on chromosome 5 and within 
      the approximately 3 Mb interval on chromosome 10. CONCLUSION: The phenotypic 
      abnormality might result from the disruption of disease-associated gene(s) or 
      microrearrangement(s) on the site of breakpoint(s).
FAU - Zhu, G
AU  - Zhu G
AD  - Changhai Hospital, the Second Military Medical University, Shanghai 200433 P. R. 
      China. guanshan_zhu@hotmail.com
FAU - Bartsch, O
AU  - Bartsch O
FAU - Wan, M
AU  - Wan M
FAU - Gillessen-Kaesbach, G
AU  - Gillessen-Kaesbach G
FAU - Passarge, E
AU  - Passarge E
LA  - chi
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
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  - Child, Preschool
MH  - *Chromosomes, Human, Pair 10
MH  - *Chromosomes, Human, Pair 5
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Phenotype
MH  - *Translocation, Genetic
EDAT- 2001/04/11 10:00
MHDA- 2001/06/29 10:01
CRDT- 2001/04/11 10:00
PHST- 2001/04/11 10:00 [pubmed]
PHST- 2001/06/29 10:01 [medline]
PHST- 2001/04/11 10:00 [entrez]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2001 Apr;18(2):96-9.