Talk to Internal Medicine on Genetic Test
Asking For Other, Male 14, Karachi
My 14 yr old son have Pectus carinatum, orthostatic proteinuria and few months back these steria marks appeared on his back ( this pic is latest of his marks in start they were pink), Dr suggest for Genetic test (WES) to rule out connective tissue disorder (Marfan) which we got done and these are his reports.... can anyone tell me what actually these reports say and if he doesn't have Marfan so what is going on with him.. Thanks
Reports shows no detection of some gene defects which r common in marfans. But he is heterozygous for some genes mean he has 1 copy of defected genes.
Dr. Syed Zohaib Maqbool - Internal Medicine Specialist
MBBS. FCPS Medicine | Lahore
27 Positive Reviews
As per the report your son does not have Marfan’s syndrome. However he is a carrier for some rare genetic diseases mentioned in the report. So ideally genetic counselling should be done before thinking about marriage in the future including offering genetic testing to the potential partner as well. In addition the generic screening of other siblings can be considered as well with the same thing in mind (future genetic counselling). Regarding the cause of his problems, it could be Ehlers-Danlos syndrome which is another condition that mimics Marfan’s syndrome but its most common type cannot be detected by genetic testing. So it usually does not show up in the genetic test.
Dr. Brig R Muhammad Asif - Internal Medicine Specialist
MBBS, FCPS (Medicine) | Rawalpindi
535 Positive Reviews
can u send pic of front of chest
book an online appointment
Patient
Post Owner
@Dr. Brig R Muhammad Asif
its front pic
MBBS, FCPS (Medicine) | Rawalpindi | Book Appointment
518 Positive Reviews
details of other tests
1 year ago
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Patient
Post Owner
Thanks for your reply.
kindly tell is there anything to get worried about? and if he doesn't have marfan so what could be the reason for marks at his back?
1 year ago
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U have to keep the child in 6monthly followup
1 year ago