1992
DOI: 10.1002/ajmg.1320430121
|View full text |Cite
|
Sign up to set email alerts
|

Fra(X)(q27.2), the common fragile site, observed in only one of 760 cases studied for the fragile X syndrome

Abstract: Cell cultures from 760 whole blood, amniotic fluid, chorionic villus sample, and peripheral umbilical blood sample specimens were exposed to multiple fra(X)(q27.3) induction systems (none had aphidicolin). Fifty-three exhibited the rare fragile site, fra(X)(q27.3) or FRAXA, none of which demonstrated the common fragile site or FRAXD at band Xq27.2. Only one cell in one of the negative whole blood FUdR-treated cultures from a mentally retarded male showed FRAXD. Therefore, it appears that FRAXD occurs very rare… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1

Citation Types

1
0
0

Year Published

1992
1992
1997
1997

Publication Types

Select...
3

Relationship

1
2

Authors

Journals

citations
Cited by 3 publications
(1 citation statement)
references
References 13 publications
1
0
0
Order By: Relevance
“…The only other instance of identical twin detection involved males [Rocchi et al, 19851. This finding together with information on the reliability of low frequency fragile X [fra(X)] prenatal detection in females will be presented. We also present here data that, together with our hypothesis that the occurrence of FRAXA [(fra(X)(q27.2)] is very rare in fra(X)(q27.3) induction systems (Jenkins et al, 1992a), lead us to conclude that the possibility of false positive cytogenetic prenatal diagnosis in females is very unlikely, even at very low levels of cytogenetic expression.…”
Section: Introduci'ionsupporting
confidence: 59%
“…The only other instance of identical twin detection involved males [Rocchi et al, 19851. This finding together with information on the reliability of low frequency fragile X [fra(X)] prenatal detection in females will be presented. We also present here data that, together with our hypothesis that the occurrence of FRAXA [(fra(X)(q27.2)] is very rare in fra(X)(q27.3) induction systems (Jenkins et al, 1992a), lead us to conclude that the possibility of false positive cytogenetic prenatal diagnosis in females is very unlikely, even at very low levels of cytogenetic expression.…”
Section: Introduci'ionsupporting
confidence: 59%