PMID- 11142760
OWN - NLM
STAT- MEDLINE
DCOM- 20010201
LR  - 20111117
IS  - 1090-6576 (Print)
IS  - 1090-6576 (Linking)
VI  - 4
IP  - 3
DP  - 2000
TI  - FRAXA screening in Brazilian institutionalized individuals with nonspecific 
      severe mental retardation.
PG  - 283-7
AB  - Individuals with mental disabilities are a heterogeneous group, mainly when we 
      consider the etiology of mental retardation (MR). Recent advances in molecular 
      genetics techniques have enabled us to unveil more about the molecular basis of 
      several genetic syndromes associated with MR. In this study, we surveyed 85 
      institutionalized individuals with severe MR, 38 males and 47 females, by two 
      molecular techniques, to detect CGG amplifications in the FMR1 gene. No FRAXA 
      mutations were found in the FMR1 gene, reinforcing the low prevalence of Fragile 
      X syndrome among institutionalized individuals with severe MR. We considered the 
      PCR protocol used adequate for screening males with mental retardation of unknown 
      etiology. The use of the Southern blot is still necessary for the decisive 
      diagnosis of the Fragile X syndrome. To exclude chromosomal abnormalities 
      associated with MR as a possible cause of the phenotype in these individuals, 
      G-banded chromosome analysis was performed in all patients and 7.3% of 
      chromosomal aberrations were found. Our results are similar to those reported 
      previously and point to the necessity of expanding the molecular investigation 
      toward other causes of MR, such as subtle chromosomal rearrangements, as 
      suggested recent by a combination of fluorescence in situ hybridization (FISH) 
      and PCR studies.
FAU - Mulatinho, M V
AU  - Mulatinho MV
AD  - Department of Cell Biology and Genetics, Universidade do Estado do Rio de 
      Janeiro, Brazil.
FAU - Llerena, J C
AU  - Llerena JC
FAU - Pimentel, M M
AU  - Pimentel MM
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genet Test
JT  - Genetic testing
JID - 9802546
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Brazil/epidemiology
MH  - Child
MH  - Child, Preschool
MH  - Cytogenetic Analysis
MH  - Female
MH  - Fragile X Syndrome/*diagnosis/epidemiology/genetics
MH  - *Genetic Testing
MH  - Humans
MH  - Incidence
MH  - Infant
MH  - Institutionalization
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - Middle Aged
MH  - Polymerase Chain Reaction
EDAT- 2001/01/06 11:00
MHDA- 2001/02/28 10:01
CRDT- 2001/01/06 11:00
PHST- 2001/01/06 11:00 [pubmed]
PHST- 2001/02/28 10:01 [medline]
PHST- 2001/01/06 11:00 [entrez]
AID - 10.1089/10906570050501515 [doi]
PST - ppublish
SO  - Genet Test. 2000;4(3):283-7. doi: 10.1089/10906570050501515.