PMID- 17331878
OWN - NLM
STAT- MEDLINE
DCOM- 20070515
LR  - 20091119
IS  - 1071-9091 (Print)
IS  - 1071-9091 (Linking)
VI  - 14
IP  - 1
DP  - 2007 Mar
TI  - Role of cytogenetics and molecular cytogenetics in the diagnosis of genetic 
      imbalances.
PG  - 2-6
AB  - Five decades ago, Tijo and Levan (1956) first recognized the correct chromosome 
      number in man to be 46. Shortly thereafter, several chromosome aneuploid 
      syndromes were identified. In the early 1970s, various chromosomal-banding 
      techniques were developed that allowed the recognition of individual chromosomes 
      and deletions and duplications as etiologies for numerous chromosome syndromes. 
      Slightly more than 10 years ago, fluorescence in situ hybridization (FISH) 
      procedures, using fluorescent-labeled DNA sequences were developed and clinical 
      use of this technique allowed for the identification of cryptic chromosome 
      abnormalities associated with microdeletions and microduplications. The use of 
      subtelomere region-specific FISH probes further led to the identification of 
      deletions and other unbalanced rearrangements in individuals with mental 
      retardation with an apparently normal karyotype. More recently, microarray 
      comparative genomic hybridization was developed, and the technique has recently 
      become incorporated into the clinical cytogenetics laboratory for the 
      identification of submicrosopic deletions and duplications that are associated 
      with developmental delay. The intent of this article is to review the cytogenetic 
      and molecular cytogenetic techniques currently available for the diagnosis of 
      individuals with neurologic disease and genetic imbalances that result in 
      neurologic disturbances and to summarize the most efficient and appropriate use 
      of these techniques in clinical practice.
FAU - Dave, Bhavana J
AU  - Dave BJ
AD  - Department of Pediatrics and Human Genetics Laboratory, Munroe Meyer Institute 
      for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha 
      68198-5440, USA. bdave@unmc.edu
FAU - Sanger, Warren G
AU  - Sanger WG
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Semin Pediatr Neurol
JT  - Seminars in pediatric neurology
JID - 9441351
SB  - IM
MH  - Abnormalities, Multiple/*diagnosis
MH  - Animals
MH  - Chromosome Aberrations
MH  - Chromosome Disorders/*diagnosis
MH  - Cytogenetic Analysis/*methods
MH  - Cytogenetics/*methods
MH  - Genetic Testing
MH  - Humans
RF  - 29
EDAT- 2007/03/03 09:00
MHDA- 2007/05/16 09:00
CRDT- 2007/03/03 09:00
PHST- 2007/03/03 09:00 [pubmed]
PHST- 2007/05/16 09:00 [medline]
PHST- 2007/03/03 09:00 [entrez]
AID - S1071-9091(06)00160-4 [pii]
AID - 10.1016/j.spen.2006.11.003 [doi]
PST - ppublish
SO  - Semin Pediatr Neurol. 2007 Mar;14(1):2-6. doi: 10.1016/j.spen.2006.11.003.