Doctor insights on:
Abnormal Female Karyotype
Doc terminated my preg. bec fetus had cystic hygroma, aborted fetus's cytogenetic lab test result: apparently normal female karyotype, plz explain??
It happens: A cystic hygroma can show up in many forms with one presentation similar to a feature of some TURNER Syndrome (X0) females. If a Turner syndrome patient survives pregnancy they are all sterile females that end up short & have a potential for heart, brain & other problems. However it can also show up in otherwise normal kids, which happened in your case. ...Read moreSee 1 more doctor answer
Meaning of: transmitral spectral doppler flow pattern is abnormal for age. Isolated premature ventricular contractions. Normal 24 hour holter exam.?
3 MCs no live birth. 2 MCs turner's & trisomy14 in fetus. Parents karyotyping normal. What other genetic tests shld be done. Risk of abnormal child ?
Depends: When kids are diagnosed with gh deficiency, a brain MRI is done to look for anything which may be disturbing the pituitary gland. Most often, gh deficiency is idiopathic, meaning that we don't know. Being a fraternal twin does not influence the cause unless there might have been difficulties with either pregnancy or delivery. ...Read more
Not sure: A lot depends on the situation for which the test was done and what is meant by "variant." mutations of this gene, when inherited from both parents, can cause an extremely rare condition termed "ataxia-telangiectasia-like disorder" where a specific part of the brain, the cerebellum, does not work properly and movements of the arms and legs are wobbly. Show your doctor http://omim.Org/entry/600814. ...Read moreSee 1 more doctor answer
Sometimes: Many cancers seem to have a genetic component. For example, those who have down syndrome (an extra chromosome #21) are more likely to get leukemia than those who do not have abnormal chromosomes. However, many of the minor chromosome changes are not associated with an increased risk of getting cancer. It all depends on the chromosome problem itself. ...Read moreSee 2 more doctor answers
Is it normal to have an endometrial stripe measurement of 11mm and endometrial biopsy showing precancerous cells? 38 yr old premenopausal Female.
Chromosomes,POC/Fetal loss.Each metaphase was trisomy 14.Results:47,XX,+14. Is any tretmant for that?Who having abnormal Chromosomes me or my husband
Testing: You and your husband can undergo genetic testing to see if either of you are a carrier of any genetic mutations that are likely to be passed on during conception. This is a blood test for both of you. In most cases the parents are not carriers and the genetic mutation that occurred during conception was spontaneous and not likely to recur. ...Read more
What connection is my drs missing? Diagnosed P.O.T.S. Metabolic syndrome. normal female hormones, no female parts) Dizzy leg pain. Abnor calc, D labs
Mid cycle bleeding all test including endometrial biopsy pap smear pelvic ultrasound harmones normal i'm obese 36 age kids 14 , 8 c section?
I received a diagnosis of "Sinus Rhythm, T Wave Abnormality in anterior leads, borderline abnormal for age (29) and gender (F). Abnormal ECG. Worried?
Cardiologist: These T wave abnormalities are nonspecific and it's important to compare them to any prior EKG if one is available. If none are available the findings may not necessarily be due to any cardiac pathology and may even be a normal variant in a young woman. A cardiologist is best qualified to evaluate and examine you and recommend further testing like an echocardiogram if deemed advisable. ...Read more
Glandular cells: It means that there are glandular cells that appear abnormal. This type of pap result needs close follow up to include additional testing as there's a pretty high percentage of there being a precancerous or even cancerous lesion present. You may need a colposcopy and a scraping from the inside of your cervix performed. Be sure to see your doctor for follow up. ...Read moreSee 1 more doctor answer
Sperm analysis: 7.5ml, 60mil/ml, morphology 3%, motility 12% with 4% progressive. Possible to conceive naturally? Female tests normal.
Female: Turner's syndrome, caused by only 1 x chromosome only affects females. More than two copies of the x chromosome only affects females. ...Read more
2 early MCs, heartbeat seen in 2nd case, no live birth, turner's synd in fetus 2nd case, karyotyping & antiphosopolipid normal. Way fwd? More tests?
Try again: Abnormal chromosome patterns are seen in many of the MC's studied, so this would not be unexpected. If both you and spouse have been karyotyped & normal, you are not carrying a translocation that would doom you both to expect MC's.Consult the clinical genetics department at Toronto Children's if you have not already and see if their is anything more they recommend. ...Read moreSee 1 more doctor answer