PMID- 15557693
OWN - NLM
STAT- MEDLINE
DCOM- 20041221
LR  - 20141225
VI  - 8
IP  - 1
DP  - 2004 Jan-Mar
TI  - [Molecular cytogenetic techniques and their application in clinical diagnosis].
PG  - 7-24
AB  - Cytogenetics analysis is at present the basic element of the diagnostic process 
      of genetic disorders which are caused by chromosomal abnormalities. Since the 
      chromosome banding technique has been introduced in the 1970s, it has been 
      available as a diagnostic tool of a number of clinical syndromes. It enabled to 
      prove the causal association between specific chromosomal abnormalities and 
      clinical features observed in patients. However, since banding resolution is not 
      always sufficient for the identification of chromosomal abnormalities, additional 
      techniques for solving diagnostic dilemma of classical cytogenetics are needed. A 
      new field of cytogenetics -- molecular cytogenetics, the product of a combination 
      of cytogenetics and molecular biology, has increased the resolution and 
      diagnostic utility of cytogenetic analysis. The basic method of molecular 
      cytogenetics is fluorescence in situ hybridization (FISH). It enables a specific 
      detection of unique sequences, chromosomal regions or entire chromosomes in 
      metaphase, interphase cells or in tissue sections. In this article FISH technique 
      and its modifications such as multicolor FISH (M-FISH, SKY, CCK), Primed In Situ 
      Labelling (PRINS) and Comparative Genomic Hybridization (CGH) are presented. The 
      range of applications and the use of these techniques for the identification of 
      chromosomal abnormalities in relation to diagnostic possibilities of the 
      classical methods of karyotyping is also discussed.
FAU - Nowakowska, Beata
AU  - Nowakowska B
AD  - Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17a, 01-211 
      Warszawa, Poland. beata_nowakowska@hotmail.com
FAU - Bocian, Ewa
AU  - Bocian E
LA  - pol
PT  - English Abstract
PT  - Journal Article
PT  - Review
TT  - Cytogenetyka molekularna -- techniki badawcze i ich zastosowanie w diagnostyce 
      klinicznej.
PL  - Poland
TA  - Med Wieku Rozwoj
JT  - Medycyna wieku rozwojowego
JID - 100928610
SB  - IM
MH  - Chromosome Aberrations
MH  - Chromosome Deletion
MH  - *Cytogenetic Analysis
MH  - Genetic Diseases, Inborn/diagnosis/genetics
MH  - Genetic Testing/methods
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence/methods
MH  - Infant, Newborn
MH  - Karyotyping/methods
MH  - *Molecular Diagnostic Techniques
MH  - Nervous System Diseases/diagnosis/genetics
MH  - Nucleic Acid Hybridization/methods
RF  - 71
EDAT- 2004/11/24 09:00
MHDA- 2004/12/22 09:00
CRDT- 2004/11/24 09:00
PHST- 2004/11/24 09:00 [pubmed]
PHST- 2004/12/22 09:00 [medline]
PHST- 2004/11/24 09:00 [entrez]
PST - ppublish
SO  - Med Wieku Rozwoj. 2004 Jan-Mar;8(1):7-24.