why is Atrioventricular Septal Defect so common in children with Down's syndrome?
477238
THe KEnnedy Kreiger Institute is doing some research on this.  They are lacking funding but if you go to their website you may be able to find out who is in charge of the study and email them some questions
1145797
If it was congenital, then is not necessarily genetic, so it may not happen again.\nCongenital is something that happened during the gestation for different reasons, it's a contingency.\nA genetic flaw has a percentage of possibilities to show up.
464570
down's syndrome is a disease that results from gaining an extra autosome through nondisjunction.  It effects autosome 21.
301931
umm, though i'm not sure what the question really says- i think you are asking about genetic diseases involved with chromosome number, if i'm right the following stands, if not then ignore it. \nif you have less or more chromosomes than 46 you will not survive far past fertilization, at least thats what i understand- either that, or you would be a different species- unable to produce a fertile offspring with a human.\n\nHowever there is a lot of confusion around Down's syndrome. This is caused by non-disjunction of chromosomes during meiosis, and creates trisomy genotypes on chromosome 21. \n\nTrisomy and non-disjunction can also occur on chromosome 17- causing another disease, which i have momentarily forgotten the name of. sorry.
209323
Noonan syndrome is a genetic condition which has an incidence rate of: 1/1,000-1/2,500 live births. It can occur in both males and females.\n\nNoonan syndrome is similar to Turner syndrome.\n\nCharacteristics may include: congenital heart disease, short stature, distinctive facial features, dental problems, bruising, bleeding, and learning difficulties.\n\nThe facial features may include: low-set or rotated ears, and Hypertelorism (widely spaced eyes).\n\nAnother characteristic is "Pectus excavatum," which is a concave shape in the chest.\n\nThe accepted name of this disorder is Noonan syndrome. It is named after Dr. Jacqueline A. Noonan who in 1968 reported 19 cases with the condition including 17 with narrowing of the artery to the lungs (pulmonary stenosis). Twelve of Dr. Noonan's patients were male and 7 were female.\n\nIn the older adult there is a more triangular face with a high hairline in front, sharper features, prominent folds between the nose and lips (nasiolabial folds) and generally wrinkled skin.\n\nAdditional key findings in Noonan syndrome including:\nFailure to grow normally (failure to thrive) in infancy (40%) \nDevelopmental delay (26%) \nLearning disability (15%) \nLanguage delay (20%) \nHearing loss, usually mild (12%) \nMild mental retardation ( in no more than 35% of cases). \nAbnormal bruising or bleeding can occur in Noonan syndrome due to subnormal levels of blood platelets (thrombocytopenia) and a variety of clotting factor deficiencies.\n\nMuch more info in the links!
30692
Yes, but there is an increased risk of their child also having Down Syndrome. Sometimes very mentally retarded people are sterile though, so if this is a question pertaining to a certian someone you know, they'd need to get a check up to find out for SURE.
803525
Dilated cardiomyopathy. This is the most common form of cardiomyopathy. In this disorder, the left ventricle — your heart's main pumping chamber — becomes enlarged (dilated) and its pumping ability becomes less forceful. Although this type can affect people of all ages, it occurs most often in middle-aged people, with an incidence greater among men than women. Some people with dilated cardiomyopathy may have inherited the condition. \n\nHypertrophic cardiomyopathy. This type involves abnormal growth or thickening of your heart muscle, particularly affecting the muscle of the left ventricle. As thickening occurs, the heart tends to stiffen and the size of the pumping chamber may shrink, interfering with your heart's ability to deliver blood to your body. Hypertrophic cardiomyopathy can develop at any age, but the condition tends to be more severe among those diagnosed during childhood. Researchers have identified abnormal genes that predispose people to hypertrophic cardiomyopathy. Most affected people have a family history of the disease. \n\nRestrictive cardiomyopathy. The heart muscle in people with restrictive cardiomyopathy becomes rigid and less elastic, interfering with the expansion and filling of the heart's ventricles with blood between heartbeats or contractions. While restrictive cardiomyopathy can occur at any age, it tends to affect older people most often. It's much less common than the other types of cardiomyopathy. Restrictive cardiomyopathy can occur for no known reason (idiopathic) or may result from diseases elsewhere in the body that affect the heart. One example is amyloidosis, a rare condition in which abnormal proteins present in the blood are deposited into the heart. \n\nIn most people, the cause of cardiomyopathy is unknown. In some people, however, doctors are able to identify a cause or contributing factors, including some that affect the heart and cardiovascular system. For example, any of the following conditions may cause or contribute to a dilated and poorly functioning heart:\n\nSustained high blood pressure \nHeart valve problems \nHeart tissue damage from a previous heart attack \nChronic rapid heart rate \nMetabolic disorders, such as thyroid disease or diabetes \nNutritional deficiencies of essential vitamins and minerals, such as thiamin (vitamin B-1), selenium, calcium and magnesium \nPregnancy \nExcessive use of alcohol over many years \nAbuse of cocaine or antidepressant medications, such as tricyclic antidepressants \nUse of some chemotherapy drugs to treat cancer \nCertain viral infections, which may injure the heart and trigger cardiomyopathy \nHemochromatosis is a disorder in which your body doesn't properly metabolize iron, causing the accumulation of iron in your heart muscle. This can lead to a weakening of the heart muscle, resulting in the appearance of dilated cardiomyopathy.\n\nI hope this helps.  Good luck.
1054157
Yes.There are many reasons why.\n* Congenital heart disease\n*High blood pressure\n*other health issues such as Diabetes,morbid obesity,aneroxia,bullimia\n*drug abuse(all drugs,whether they are legal or illegal can be abused)\n*A high fat,high calorie,high sodium,high cholesterol diet and very little exercise
108032
I think you should seek a second opinion.  Sometimes pediatricians are quick to dismiss b/c they see so many of the same things all the time.  It could be something more serious (though I have no idea).  A friend of mine is in the process of getting over an extremely rare disease, and he wasn't properly diagnosed until he was taken to one of the best hospitals in the country.  Sometimes it takes some insistence and a clean pair of eyes to get to the root of the problem.  Best of luck with your kids!
792333
Not really, although it can tend to run in families. It is something people are born with. Very basically, it happens when a heart has an extra electrical pathway which at times causes a rapid heart rate. It sometimes can be serious, so if you haven't seen an electrophysiologist, find one soon. \nMore information is available at the Heart Rhythm Society website.\nGood Luck :>)
135674
A common abnormality is caused by nondisjunction, the failure of replicated chromosomes to segregate during Anaphase II. A gamete lacking a chromosome cannot produce a viable embryo. Occasionally a gamete with n+1 chromosomes can produce a viable embryo.\n\nSex-chromosome abnormalities(not to mention super-male & super-female) may also be caused by nondisjunction of one or more sex chromosomes. Any combination (up to XXXXY) produces maleness. Males with more than one X are usually underdeveloped and sterile. XXX and XO women are known, although in most cases they are sterile.
231326
Trisomy 21, and in the past monngolism.
969636
I have lots of them seeing as my child has Down syndrome.  My question to you is why do you want them?
500363
In most of the cases this a benign condition. In fact it is mostly discovered during routine tests.Unless and untill MVP (mitral valve prolapse) significantly alters haemodynamics, which is quite rare, its of not much clinincal significance.Although studies indicate that people who have it are prone to  emotional swings.Anatomically one of the cusps of the MV prolapses in the diastole due to no. of reasons.Please leave all you worries to the doctors and just forget about it. Better be proud of it rather than thinking and getting worried! MVP makes u a little different frm other people!!
9362
In trisomy 21 (Down's syndrome)there is an error that occurs during meiois when the parental cell with 46 chromosomes divides. \n\nThis results in 2 cells (egg or sperm) - one with 22 chromosomes and the other with 24. The cell with 24 chromosomes has an extra copy of the 21st chromosome and when fused with a normal cell (sperm or egg) the resultant embryo will have 3 copies of the 21st chromosome.\n\n90% of these errors occur in the female egg and the cause is not known.
110908
Yes, this condition is called Dextrocardia.\nDextro means 'right' and cardia stands for 'heart'.\n\nIt can result in congenital heart defects if it is only the heart which is on the right side and the rest of your body parts are on their normal places.\n\nBut, if you also have a condition known as situs inversus where all your organ system including the heart is reversed, then the chances of heart defects are low.\n\nSo, to conclude, I would say a single condition of 'dextrocardia' or 'situs inversus' is less safe than having both of them.
183467
Looks like it is one word.  \n\nSeptum, interatrial: The wall separating the upper chambers (the atria) of the heart. A hole in the interatrial septum is termed an atrial septal defect (ASD).  http://www.medterms.com/script/main/art.asp?articlekey=5457\n\nInteratrial septum: The partition separating the upper chambers (the atria) of the heart.  http://www.talkmedical.com/medical-dictionary/7615/Interatrial-Septum