PMID- 1296443
OWN - NLM
STAT- MEDLINE
DCOM- 19930419
LR  - 20150901
IS  - 0001-6578 (Print)
IS  - 0001-6578 (Linking)
VI  - 33
IP  - 5
DP  - 1992 Sep-Oct
TI  - Identification of sex chromosomal abnormalities by fluorescence in situ 
      hybridization.
PG  - 332-40
AB  - Chromosomes can be specifically stained in metaphase spreads and interphase 
      nuclei by fluorescence in situ hybridization (FISH). Case 1 was a 20 year-old 
      female patient who had chromosomal analysis six years ago because of primary 
      amenorrhea and short stature. Three cell lines were identified: 45, X (20%); 46, 
      X plus an unidentifiable fragment (50%) and 46, X plus an isodicentric X 
      chromosome of short arm fusion (30%). Case 2 was a 6 year-old girl with the 
      problems of clitoromegaly and growth retardation. By use of in situ hybridization 
      with biotinylated X and Y centromere-specific alpha repetitive sequence probes, 
      we were able to identify the marker chromosomes to be X and Y-chromosome 
      originated, respectively. The use of FISH can facilitate clinical cytogenetic 
      diagnosis, and allows fast screening of a large number of metaphases. This 
      technique is applicable to the screening of other types of chromosomal mosaicism 
      as well.
FAU - Hou, J W
AU  - Hou JW
AD  - Department of Pediatrics, National Taiwan University Hospital, Taipei, R.O.C.
FAU - Lee, M L
AU  - Lee ML
FAU - Wang, T R
AU  - Wang TR
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - China (Republic : 1949- )
TA  - Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
JT  - Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er 
      ke yi xue hui
JID - 16210470R
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Adolescent
MH  - Child
MH  - Female
MH  - Fluorescence
MH  - Genetic Markers
MH  - Humans
MH  - In Situ Hybridization
MH  - Sex Chromosome Aberrations/*diagnosis
MH  - Turner Syndrome/genetics
EDAT- 1992/09/01 00:00
MHDA- 1992/09/01 00:01
CRDT- 1992/09/01 00:00
PHST- 1992/09/01 00:00 [pubmed]
PHST- 1992/09/01 00:01 [medline]
PHST- 1992/09/01 00:00 [entrez]
PST - ppublish
SO  - Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1992 Sep-Oct;33(5):332-40.