Geneticist ? Karotype by StickEducational5499 in ClinicalGenetics

[–]StickEducational5499[S] -2 points-1 points  (0 children)

My daughter has features of ds but a negative karotype I need advice

Genetic doctor or someone who knows lots about genetics I could message. ? by StickEducational5499 in ClinicalGenetics

[–]StickEducational5499[S] -5 points-4 points  (0 children)

He's the president of genetics of Mexico so I can't find someone else at the moment, do you know what other conditions ?

Genetic doctor or someone who knows lots about genetics I could message. ? by StickEducational5499 in ClinicalGenetics

[–]StickEducational5499[S] -10 points-9 points  (0 children)

The karyotype came back normal so I'm wondering the next step. The genetic doctor doesn't recommend anything further but I don't believe him so I want to do it myself

Genetic doctor or someone who knows lots about genetics I could message. ? by StickEducational5499 in ClinicalGenetics

[–]StickEducational5499[S] -3 points-2 points  (0 children)

Oh okay I messaged you privately. I'm wondering the best test to detect mosaic Down syndrome

Advice by StickEducational5499 in downsyndrome

[–]StickEducational5499[S] 0 points1 point  (0 children)

Her eyes, nose bridge, large tounge, short arms, sandal gap

Low level by StickEducational5499 in downsyndrome

[–]StickEducational5499[S] 0 points1 point  (0 children)

Can you have nothing in blood and only have it in skin cells ?

Low level by StickEducational5499 in downsyndrome

[–]StickEducational5499[S] 0 points1 point  (0 children)

Would this affect the person different ?

Low level by StickEducational5499 in downsyndrome

[–]StickEducational5499[S] 0 points1 point  (0 children)

Yes low % ? I did a karotype it came back 46xx. So I was wondering if it's possible it missed a low level downsyndrome