new_n_lost
Politically InCorrect
Topics: 650
Posts: 6,058
|
A female neonate has profound hypotonia. The only known complication of pregnancy was polyhydramnios. The mother has a lack of facial expression and weak muscles; she says she did not have any problems as an infant or child. Which of the following best explains the difference in presentations in the mother and child?
A ) Anticipation
B ) Delayed onset
C ) Genetic heterogeneity
D ) Incomplete penetrance
E ) Pleiotropy
___________________
FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
|
| new_n_lost
Politically InCorrect
Topics: 650
Posts: 6,058
|
Dont have the answer to this Question according to me its D Incomplete Penetrance
Wht do u guys think ????
Edited by new_n_lost on 04/07/07 - 01:26 PM
___________________
FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
|
| babydoc4usmle
Forum Guru
Topics: 18
Posts: 634
|
i would say anticipation
|
| alain
Forum Newbie
Topics: 0
Posts: 5
|
i agreee its A
|
| tanmaynator
Forum Senior
Topics: 12
Posts: 153
|
i would say anticipation.. and dare to say its spinobulbar muscular atrophy but could be damn wrong.. does anyone have the diagnosis to this condition??
|
| epica
|
Anticipation, congenital m. dystrophy
|
| mytime
Kick my butt!
Topics: 39
Posts: 3,174
|
I think anticipation too but what the heck are they talking off?!
|
| mytime
Kick my butt!
Topics: 39
Posts: 3,174
|
Myotonic muscular Dystrophy.CTG repeats.
Edited by mytime on 04/11/07 - 09:33 PM
|
| epica
|
Myotonic muscular Dystrophy.CTG repeats.
Agree
|
| Mikeland
Forum Senior
Topics: 24
Posts: 109
|
"a"
Anticipation is a phenomenon whereby the symptoms of a genetic disorder become apparent at an earlier age as it is passed on to the next generation. In most cases, an increase of severity of symptoms is also noted. It is common in trinucleotide repeat disorders like Huntington's disease, myotonic dystrophy and fragile X syndrome, where triplet repeat mutations in DNA are implicated. Rather strangely, all of these diseases produce neurological symptoms.
|
| lq2006
Forum Elite
Topics: 43
Posts: 382
|
Anticipation
|
| kingusmle
Forum Elite
Topics: 32
Posts: 270
|
true anticipation
|
| nimer1456
Forum Newbie
Topics: 1
Posts: 19
|
Anticipation
|
| yoga
usmlelogy professor
Topics: 73
Posts: 634
|
 just answered in another thread
___________________
we are all in the gutter but some of us looking at the stars
|
|
| |
| | | | | | | | | | | | | | |
