PMID- 10635746
OWN - NLM
STAT- MEDLINE
DCOM- 20000204
LR  - 20161020
IS  - 0869-6047 (Print)
IS  - 0869-6047 (Linking)
IP  - 11
DP  - 1999
TI  - [Molecular cytogenetic pre- and postnatal diagnosis of chromosomal 
      abnormalities].
PG  - 12-5
AB  - Molecular cytogenetic studies in the prenatal and postnatal identification of 
      chromosomal anomalies in children with mental retardation and congenital 
      developmental malformations are discussed. Molecular cytogenetic techniques, such 
      as fluorescence in situ hybridization (FISH) are employed after the use of 
      classic cytogenetic studies. FISH diagnosis is recommended to apply in the cases 
      when classic cytogenetic methods are not beneficial: post- and prenatal autosomal 
      trisomies; gonosomal aneuploidies, including mosaic forms; marker chromosomes; 
      structural chromosomal anomalies, including fragile X syndrome. The authors' 
      experience showed that (1) FISH should be utilized only as an adjunctive test for 
      classical cytogenetic studies when banding techniques are ineffective; (2) FISH 
      confirms a cytogenetic diagnosis; (3) multicolored probe detection gives an 
      additional possibility in the FISH analysis. The findings demonstrate that 
      molecular cytogenetic methods provide a rapid accurate approach to investigating 
      and diagnosing chromosomal anomalies. Molecular cytogenetic diagnosis allows a 
      more correct correlation of chromosomal abnormalities to be shown with a clinical 
      picture and assists in identifying new chromosomal syndromes in children with 
      undifferentiated forms of mental retardation and congenital malformations.
FAU - Vorsanova, S G
AU  - Vorsanova SG
FAU - Iurov, Iu B
AU  - Iurov IuB
LA  - rus
PT  - English Abstract
PT  - Journal Article
PT  - Review
TT  - Molekuliarno-tsitogeneticheskaia pre i postnatal'naia diagnostika khromosomnoi 
      patologii.
PL  - Russia (Federation)
TA  - Vestn Ross Akad Med Nauk
JT  - Vestnik Rossiiskoi akademii meditsinskikh nauk
JID - 9215641
SB  - IM
MH  - Chromosome Aberrations/*diagnosis/genetics
MH  - Chromosome Disorders
MH  - Congenital Abnormalities/diagnosis/*genetics
MH  - *Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - Infant, Newborn
MH  - Molecular Biology/*methods
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
RF  - 21
EDAT- 2000/01/15 00:00
MHDA- 2000/01/15 00:01
CRDT- 2000/01/15 00:00
PHST- 2000/01/15 00:00 [pubmed]
PHST- 2000/01/15 00:01 [medline]
PHST- 2000/01/15 00:00 [entrez]
PST - ppublish
SO  - Vestn Ross Akad Med Nauk. 1999;(11):12-5.