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Doctor insights on: What Is Chromosome 21

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Is this normal for trisomy 21. Hand flapping?

Is this normal for trisomy 21. Hand flapping?

Yes: Hand flapping can occur with a variey of conditions, including trisomy 21 and many forms of intellectual disability. It typically occurs as "overflow, " when the child is excited or frustrated. It is not dangerous, per se; if it occurs so persistently that it interferes with more desirable activities, antipsychotics sometimes are used to diminish the frequency; behavioral approaches may work too. ...Read more

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A 4 month old's hemoglobinopathy test is indeterminate. Mother is fa and father is aa ( both normal). Is the baby atrisk?

A 4 month old's hemoglobinopathy test is indeterminate. Mother is fa and father is aa ( both normal). Is the baby atrisk?

Not likely: This is a bit unusual. In a condition known as hereditary persistence of fetal hemoglobin (hpfe) there is an elevated amount of fetal hemoglobin present. This is reported as af, as there is always more HGB a than f present, unless you have thalassemia trait as well. If mom is not anemic, shouldn't be a problem. Not sure what testing was done to demonstrate that dad is aa rather than a/thal though. ...Read more

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What is a defective P53 gene. Is it inheritable?

What is a defective P53 gene. Is it inheritable?

Cell regulation: The P53 gene is thought to be involved in regulating cell death. When the P53 gene mutates or has a change from the normal gene, this may lead to types of cancers. ...Read more

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WBC Count is high,BCR-ABL Translocation ratio is 56.31% in bone marrow test. what is the exact problem? Please provide the solution

WBC Count is high,BCR-ABL Translocation ratio is 56.31% in bone marrow test. what is the exact problem? Please provide the solution

Demand an answer: You have chronic granulocytic leukemia or one of its close relatives and you should have been told. There's no "solution" in terms of an easy cure, but this is a manageable illness. You owe it to yourself both to get the full picture from your physicians, and read up on this family of illnesses and the treatment options -- medication versus (at your young age) possible curative transplant Rx. ...Read more

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My mother, age 66, had a HIDA score/result of 21. What does this mean?

My mother, age 66, had a HIDA score/result of 21. What does this mean?

Biliary colic ?: 20% ejection fraction after injection of cholecystokinin (cck) is low. Normal is usually above 33-35%. If test was performed correctly with slow injection of cck results indicate either chronic gb disease or gb dyskinesia.Hida quite accurate when patient has symptoms of biliary colic. Sometimes symptoms typical pain during test. Ultrasound of gb usually done to rule out stones/sludge. ...Read more

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What is chromosome 13?

What is chromosome 13?

Chromosome 13: Chromosome 13 has genes that can be associated w breast cancer, bladder cancer, Hirschsprung’s dz, Schizophrenia, Wilson’ Dz, some forms of deafness, Retinoblastoma and other conditions. If this is not the info you were interested in then please clarify & re-ask. ...Read more

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How is karyotype and oi is related ?

How is karyotype and oi is related ?

Unrelated: OI, Osteogenesis Imperfecta, is a genetic disorder caused by mutations in collagen genes. The mutations cannot be seen by looking at the karyotype of a person's chromosomes. ...Read more

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What does it mean if my MCV is 104 , MCH is 36, mph is 4.9, LDL is 4.1 and GFR is 71 and RBC s is 5 ul ?

What does it mean if my MCV is 104 , MCH is 36, mph is 4.9,  LDL is 4.1 and GFR is 71 and RBC s is 5 ul ?

Lab tests need to : Interpreted in the total clinical context and your results could be due to many reasons. The MCV is higher than normal - may be due to vitamin deficiency, alcohol; LDL is higher than desirable and GFR is lower than optimal. It would be prudent to discuss the results along with any symptoms, physical findings and medical history with your doctor. ...Read more

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Why there is NO fetus development in case of Complete Hyditiform Mole ( karyotype 46XX)?!

Why there is NO fetus development in case of Complete Hyditiform Mole ( karyotype 46XX)?!

No female DNA: A Complete Hydatidiform mole is formed when one or two sperm fertilize an egg that has lost its DNA. A fetus cannot form without DNA from both the egg and the sperm, even though it is 46XX. ...Read more

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Hi My bilirubin level is 2.1 is that dangerous ?

Hi 
My bilirubin level is 2.1 is that dangerous ?

Just a number.: In and of itself, the bilirubin level is just a number, and as such your number os not very high. It would be prudent, though, to interpret this value with respect to your other liver enzyme values - LDH, AST, ALT, GGT - as well as perhaps a liver ultrasound. Low value, but hard to interpret on its own. ...Read more

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My sgot is 36 and sgpt is 62 what is the danger of this result ?

My sgot is 36 and sgpt is 62 what is the danger of this result ?

Depends on cause: Sgpt is mildly elevated. The commonest cause is alcohol intake. If you drink, stop for three months and redo the test. See this site for more info. http://www.mayoclinic.com/health/elevated-liver-enzymes/my00508. ...Read more

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My beta level of pregnancy is 314 what that mean! ?

My beta level of pregnancy is 314 what that mean! ?

You are pregnant: BHCG levels are typically used to monitor the progress of and early pregnancy, either good or bad. In normal pregnancy, the level should rise at least 50% every 48 hours. Conversely, in an abnormal pregnancy the value will not rise appropriately or fall.Your value of 314 confirms you are pregnant but a second value/ test would be helpful if your doctor feels it is indicated based on your situation ...Read more

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What is the genetic disorder progeria caused by? Is it a simple recessive trait?

What is the genetic disorder progeria caused by?  Is it a simple recessive trait?

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

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What is the gene or chromosome that causes dwarfism?

What is the gene or chromosome that causes dwarfism?

Genes on chromosomes: the knowledge of the osteochondrodystrophies causing dwarfism has in some cases reached the molecular level. There are dozens of different kinds. Some are much better elucidated than others. In some, therapy has become available. ...Read more

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Day 21 progesterone is 3.1 what does this tell me?

Day 21 progesterone is 3.1 what does this tell me?

Low level: This is a relatively low level for day 21, but higher than one would expect for follicular phase of menstrual cycle. You need to count back 7 days from the start of your period to make sure it was truly day 21 (not count forward from your last period). If it was truly day 21, you may not be ovulating. ...Read more

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IVF beta HCG 1st is 1368 on 14dpt5dt is it normal? What is the chance of twins?

IVF beta HCG 1st is 1368 on 14dpt5dt is it normal? What is the chance of twins?

Hard to tell: The rise in beta levels is more predictive than the absolute level. Even then it is difficult to tell before ultrasound. ...Read more

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What is aneuploidy?

What is aneuploidy?

Wrong # chromosomes: A sperm / egg that does not have exactly 23 chromosomes (1 one each), or somatic cell that does not have exactly 46 (2 of each; heart, liver and a few others are allowed other multiples) is aneuploid. ...Read more

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What is the definition or description of: thrombophilia DNA mutation analysis?

What is the definition or description of: thrombophilia DNA mutation analysis?

Test for clotting: Certain inherited blood clotting disorders are due to genetic mutations which can be identified by a blood test. Thrombophilia is the medical term for an abnormal tendency for blood clot (thrombosis). ...Read more

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How rare is it that a 21 year old catch cervical cancer... What is the age range?

How rare is it that a 21 year old catch cervical cancer... What is the age range?

Very rare before 21: Cervical cancer is rare before age 21, and doing pap smears before then actually may cause more harm than good because it leads to more falsely positive test results. Cervical cancer is most common at age 35-55. The current us preventive services task force recommendation is to get paps every 3 years at ages 21-65. A good prevention resource is an iphone app called my health checklist 2012. ...Read more

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