PMID- 11523424
OWN - NLM
STAT- MEDLINE
DCOM- 20020318
LR  - 20161020
IS  - 0869-6047 (Print)
IS  - 0869-6047 (Linking)
IP  - 7
DP  - 2001
TI  - [Molecular cytogenetic studies of chromosomal abnormalities and disorders in 
      nervous and mental diseases: search for biological markers for diagnosis].
PG  - 26-31
AB  - Molecular cytogenetic and cytogenetic studies of chromosomal disorders in 
      patients with nervous and mental disorders were conducted using currently 
      available approaches, including fluorescence in situ hybridization (FISH) with an 
      original collection of centromeric, telomeric, region-specific DNA probes. A 
      novel in situ hybridization protocol for rapid (15-30 min) chromosomal detection 
      procedure and directly fluoresceinated DNA probes are recommended for use in 
      mental retardation and congenital malformations. Chromosomal abnormalities could 
      be detected in postnatal cases with chromosomal structural rearrangements, 
      aneuplodies of gonosomes (including mosaicisms) and autosomes (including marker 
      chromosomes). Molecular cytogenetics (or FISH diagnosis) can be used when 
      classical cytogenetic methods are insufficient. The authors' experience shows 
      that FISH should be utilized only as an adjunctive test for classical cytogenetic 
      studies when banding techniques are ineffective; cytogenetic methods should be 
      utilized for the preclinical diagnosis of Rett's syndrome. Detection by original 
      probes gives an additional possibility in FISH analysis. Molecular cytogenetic 
      methods are shown to provide a rapid accurate approach to studying and diagnosing 
      chromosomal anomalies and disorders in mental retardation with congenital 
      malformations and Rett's syndrome in children and to exploring aneuploidies in 
      the postmortem cell samples from schizophrenic patients.
FAU - Iurov, Iu B
AU  - Iurov IuB
FAU - Vorsanova, S G
AU  - Vorsanova SG
LA  - rus
PT  - Comparative Study
PT  - English Abstract
PT  - Journal Article
TT  - Molekuliarno-tsitogeneticheskie issledovaniia khromosomnykh anomalii i narushenii 
      pri nervno-psikhicheskikh zabolevaniiakh: poisk biologicheskikh markerov dlia 
      diagnostiki.
PL  - Russia (Federation)
TA  - Vestn Ross Akad Med Nauk
JT  - Vestnik Rossiiskoi akademii meditsinskikh nauk
JID - 9215641
SB  - IM
MH  - Adult
MH  - Age Factors
MH  - Aneuploidy
MH  - Autopsy
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - Mutation
MH  - Rett Syndrome/diagnosis/*genetics
MH  - Schizophrenia/diagnosis/*genetics
MH  - X Chromosome/genetics
EDAT- 2001/08/29 10:00
MHDA- 2002/03/19 10:01
CRDT- 2001/08/29 10:00
PHST- 2001/08/29 10:00 [pubmed]
PHST- 2002/03/19 10:01 [medline]
PHST- 2001/08/29 10:00 [entrez]
PST - ppublish
SO  - Vestn Ross Akad Med Nauk. 2001;(7):26-31.