PMID- 12561219
OWN - NLM
STAT- MEDLINE
DCOM- 20030613
LR  - 20101118
IS  - 0379-4172 (Print)
IS  - 0379-4172 (Linking)
VI  - 29
IP  - 9
DP  - 2002 Sep
TI  - [Molecular cytogenetic detection of minute chromosomal structural abnormality on 
      the chromosomal terminal regions].
PG  - 753-6
AB  - In order to identify those easily overlooked minute chromosomal structural 
      abnormality on the chromosomal regions, and to provide a valuable guidance for 
      pregnancy, fluorescence in situ hybridization (FISH) technique by whole 
      chromosome 7 painting probe, Xq probe and subterminal probe of 7q36-->qter was 
      performed to analyze two cases. Case 1 had a history of recurrence spontaneous 
      abotion and with an uncertain minute translocation on the chromosomal terminal 
      regions. Case 2 was a premature ovarian failure patient with a balanced 
      translocation between chromosome X and chromosome 7 by G banding. The results 
      showed that case 1 was a cryptic minute translocation on the chromosomal terminal 
      regions, and the breakpoint of case 2 was accurately determined, that is, the 
      breakpoint was not on 7q36 but on 7qter. Therefore FISH technique with whole 
      chromosome painting probe and subterminal probe could be used to diagnose the 
      minute chromosomal structural abnormality on the chromosomal regions. It could be 
      used widely in the clinical genetics and was an effective tool for genetic 
      counseling and reproductive guidance.
FAU - Tan, Yue-Qiu
AU  - Tan YQ
AD  - Human Reproductive Engineering Laboratory, Xiang-Ya School of Medicine, Central 
      South University, Changsha 410078, China.
FAU - Li, Lu-Yun
AU  - Li LY
FAU - Lu, Guang-Xiu
AU  - Lu GX
LA  - chi
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Yi Chuan Xue Bao
JT  - Yi chuan xue bao = Acta genetica Sinica
JID - 7900784
SB  - IM
MH  - Abortion, Habitual/genetics
MH  - Adult
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 18/genetics
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Chromosomes, Human, X/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Primary Ovarian Insufficiency/genetics
MH  - Translocation, Genetic
EDAT- 2003/02/04 04:00
MHDA- 2003/06/14 05:00
CRDT- 2003/02/04 04:00
PHST- 2003/02/04 04:00 [pubmed]
PHST- 2003/06/14 05:00 [medline]
PHST- 2003/02/04 04:00 [entrez]
PST - ppublish
SO  - Yi Chuan Xue Bao. 2002 Sep;29(9):753-6.