Doctor insights on:
Chromosome 23 Deletion
2 early MC, heartbeat seen 2nd case, no live birth, turner's synd in fetus 2nd case, karyotyping & immunological tests normal. Way fwd? More tests?
Maternal fetal medicine: specialist is what you need with your high risk pregnancies, if you don't have one available in your area please seek advice in a teaching hospital ...Read more
22 or 21 whatever ?: Trisomy's are causes by an abnormality at conception. The egg & sperm are both expected to bring one chromosome from each of the parents 23 pairs.If an extra comes along in the egg or sperm (usually egg), the joining produces 22 pairs & one triplet or trisomy.Chromosomes carry the genes. Too many genes confuse the cell. Some lump this with gene disorders because gene docs follow the patients ...Read moreSee 1 more doctor answer
Major substrate: Fibrillin is a major building block of microfibrils which constitute part of the important substrate for the connective tissue so developing a defective pattern. I guess you might be asking about marfans syndrome which is the ailment associated with the fbn1 gene mutation. This is the background problem to the cardiac, ocular and musculoskeletal issues that caracterize marfans. ...Read more
Single live intrauterine preg with 32w4d cephalic pres, with mild increase in liquor qty, placenta anterior, upper seg grd 2 mat, liquor slightly more?
EKG sinus rhythm rapid, prem ventri complexes, doubles of prem ventri complexes, doubles of aberrantly conducted complexes & more what does it mean?
Abnormal EKG: Lots of people have PVCs and some have bigeminy ( doubles) - but the abberant complexes are not usual. EKGs are difficult to read and a cardiologist should review the EKG to ascertain what the irregular beats are ( if it is truly abberant). May do further studies to see where the irregularity is coming from, if abnormal conduction may ablate, use medication or pacemaker. F/u/ w/ cardiologist ...Read more
Two likely forms: Progeria syndrome is considered a sporadic (new mutation) phenomenon that has few prenatal indicators. At an average birth wt of 6lb (2.7kg), the relatively small size during gestation is not specific to this disorder. There are rare instances of siblings to normal parents, showing that an autosomal recessive form exists.Most begin to show signs by 6-18mo. ...Read more
2001 Hysterctomy. 5.5x3.8x4.8cm mildly complex cyst w/in rt. ovary, total size of ovary 6.0,single thick avascular curvinlear septation.3.3 simple cyst on lft, Age 49. Calcium,ser-10.3; Fsh,133.6
L5-S1 fail segmentation&SBO, T11-L1 fused, post. hemivertebra & superior endplate infraction, facet OA & DDD T10-11, L1-2, L2-3. L5 pars defect, HELP?
Back,pain treatment: Major back problems needing surgery sometimes leave pain, even when the surgery went well. You need a pain management doc to evaluate if this is a compression vs nerve related problem.,treatments can include medication, bracing, injections, heating nerves to stop their pain, and over riding nerve pain with direct electrical stimulation -- spinal stimulation therapy. ...Read more
My 5yr old baby CBC values. Hb= 10.6 gm%; hct 37.7%; rbcs 569000/ul; MCV 66.2fl; MCH 18.6 pg; mchc 28.1g/dl tlc 14400, neutro 77%, lympho 16%, ESR 50?
ANEMIA: With only CBC and ESR results here, it looks like your child has iron deficiency anemia (microcytic hypochromic). In pakistan, thalassemia, intestinal worms, and some other infections are common giving rise to anemia. Rbc count looks very low. Check with the doctor, the child needs a detail history, thorough physical exam and further tests including iron studies. ...Read more
Rare problem: Ehlers danlos syndrome is a collection of at least 10 separate entities that have in common an abnormality of collagen production. The inheritance patterns include dominant, recessive, x-linked & has been reported as a new mutation. There is broad variability of expression within each subtype.The prevalence estimates range from 1/5000 to 1/100, 000 depending on type. ...Read more
37 year old woman 29 week of pregnant ,high grade fever last 1 week,plecenta slightly displace abnormal fetal movement hemoglobin level low lDh level?
Is bone marrow transplantation is curative for chronic myeloid leukemia caused by (Philadelphia chromosome) ?
No: This is a classic homework question and an important idea. If a child does not have a good copy of ubd3a from mom, the child gets angelman's. If a child does not have a good copy of ubd3a from dad, the child gets prader-willi. This is imprinting and is a subtle concept, unlike the easier idea of sex-linked inheritance. ...Read more
Pat.With dm and ht present with ischemic cva(> 1/3 MCA distribution) ECG show af. When we start anticoagulant?
I'm 30 y old woman pregnant at 26 weeks . Painful swilling in my hard palate 3 month ago at the same site of my past surgery (polymorphic adenoma)?
- Talk to a doctor live online for free
- Chromosome 15 deletion
- Chromosome 13 deletion
- Types of chromosome deletion syndromes
- Ask a doctor a question free online
- Chromosome 12 deletion
- Chromosome 17 deletion
- Chromosome 9 deletion
- Chromosome 21 deletion
- Talk to a clinical geneticist online for free