Doctor insights on:
Mosaic Down's Syndrome Characteristics
Revertant Mosaiciam: Revertant mosaicism or natural gene therapy is the somatic reversion of an inherited mutation, thereby partially or completely restoring the phenotype. In eb this phenomenon is visible as clinically healthy patches, surrounded by affected skin. The underlying mechanism of reversion has been investigated in a cohort of nine patients. ...Read more
Mosaicism, missing "y" in 15% of cells on amniocentesis at 15wks' & postnatal test. Male, now 16. What does this mean?Worried grandma.
Sounds fine to me: I understand that junior was found to have 15% of cells missing y chromosomes and is now grown into a 16 year old teen with a couple of developmental issues that many other kids share. From my reading, there's no particular syndrome that you're likely to see with this constellation of findings, and everybody's best served by regarding junior as exactly what he is -- a wonderful boy. ...Read more
My daughter has been diagnosed with ? Mosaicism of the skin ? Segmental vitiligo , how do we differentiate it ?
Mosaicism in a girl : Means she developed from a single fertilized egg but has 2 or > sets of genes from either crossover during mitosis, mutation of a gene or chromosome or inactivation of an x chr. Clinical genetic evaluation , chromosomal microarray ; skin biopsy help diagnose. Hyper- or hypo- pigmented areas are usually streaks that follow lines of blashko, invisible in most of us, but can be whorls/swirls. ...Read more
This analysis excludes mosaicism greater than 14% at a 95% confidence limit. Does this mean they didn't test for turners in my amino?
Mosaicism : Mosaicism means the fetus having more than one type of cell in its body and that the test is 95% certain that if present, the second cell type constitutes less than 14% of the total cells, which is a reasonable approximation that all cells in the fetus are of one type genetically, which is either 44 plus XX in case of female fetus and 44 plus XY in case of male fetus. Turner's means 44 plus X only ...Read more
Any doctor can: Any doctor technically can order that test. ...Read more
Probalbly not: Mosaicism is a condition in which cells within the same person have a different genetic makeup. This condition can affect any type of cell, including:blood cells, skin cells and egg and sperm cells. A second set of wisdom teeth by itself would not mean this condition exists. ...Read more
I have trisomy 8 mosaicism without any physical or mental difficulties. I have low platelets and neutrophil levels. Is rai suitable for me hyperthyroi?
Accounts for 1% DS: Mosaicism is encountered in ds patients & I have followed one in the past. By definition, some tissues are composed of cells with normal information & other tissues have the abnormal, but the mix could vary greatly in the percentage of either. Functional outcome depends on that blend & whether the abnormally derived tissues compose critical structures like brain, blood, reproductive organs, etc. ...Read more
DS Phenotype: flattened face, upward-slanting eyes, skin folds at inner corners of eyes, transverse palmar crease, & more. Many have congenital anomalies of the heart, intestine, skeletal system & other organs, along with hearing loss, vision problems & certain blood & neurological disorders. Intellectual Disability is usually mild-moderate. Guidelines for medical & developmental care are well-established. ...Read more
DEPENDS ON SEVERITY-: Poor muscle tone; flat face ; nasal bridge; upward slanted eyes w/epicanthic folds; low set ears; open mouth w/protruding tongue; short neck w/excessive skin on nape; short, broad hands; incurved 5th finger; transverse palmar crease; wide gap betn 1st ; 2nd toe; joint hyper flexibility; intellectual/ developmental delay w/mental retardation; congenital heart ; GI malformation, short stature etc. ...Read more
Always is a big word: I have encountered some with very mild features & one that had the features of a dwarf & none recognizable as DS.Since every cell of their body has the same extra chromosome, certain organs/areas tend to have the same problems. Their facial features/hands/feet are similar.Their heart often has a defect,but not always the same one. They share similarities but there is variation within this group. ...Read more
No: The vast majority of ds patients will have enough similarities in physical appearance to be recognised by knowledgable people.Yet all do not. I recall a case where an infant appeared to have many features of a different chromosome defect had 21 trisomy, verified by 3 separate studies.I have also seen a case thet had features so mild, the 21 trisomy was initially considered an error. ...Read more
Grandauhter has epicanthal folds, does not have down syndrome. Has 1/2 brother with d.S. Is this merely a characteristic inherited from him?
Epicanthal Meaning: By itself an epicanthal fold does not mean downs syndrome in most cases. An epicanthal fold refers to skin fold from your upper eyelid that covers part of the inside corner of your eye. It is most common in asians. ...Read more
Why do you ask?: You're going to need labs to determine this. Please forgive my frankness. Having a child with possible Down's is an extremely serious business and anyone who would trivialize this by saying, "Let's skip the labs that will establish the diagnosis" is doing both the child and the family a grave disservice. ...Read more
Is there a type of mosaic Down syndrome that doesn't require the mutation to come from either parent to have a downs child?
Yes: A mosaic Down syndrome child can come from a normal egg and normal sperm, produced by normal parents. The fertilized egg would start out normal with 46 chromosomes. It can divide into 2 normal cells, which themselves divide again. If on one of the early divisions, one cell ends up with an extra #21 chromosome and survives to continue dividing, the child will be mosaic with some trisomy 21 cells. ...Read more
What are the odds of having a child with downs syndrome in the u.S., if you do all the appropriate screenings?
One fourth of pregnancies that are affected by downs are either stillborn or miscarried, that said, one of the greatest variables is maternal age at conception.
If you are 20 years old the risk is roughly 1 in 1600, if you are 35 the risk is about 1 in 380 and if you are 40 it is about 1 in 106. ...Read more
No: Down syndrome is not a recessive condition. It is caused by an extra chromosome #21. We normally have a pair (=two copies) of each chromosomes #1-22. Individuals with Down syndrome have a third chromosome #21. Thus name "trisomy 21" as well. Here more about mechanism and heritability of Down syndrome if you are interested: http://ghr.Nlm.Nih.Gov/condition/down-syndrome. ...Read more
Depends on mom's age: A woman's chances of giving birth to a child with Down syndrome increase with age because older eggs have a greater risk of improper chromosome division. By age 35, a woman's risk of conceiving a child with Down syndrome is 1 in 400. By age 45, the risk is 1 in 35. However, most children with Down syndrome are actually born to women under age 35 because younger women have far more babies. ...Read more
To many to list: Please check out the national down center site at www.Ndsccenter.Org. ...Read more
Behaviors in DS: 18-23% have behavioral, emotional or psychiatric problems. ~ 6% have extreme aggression; 73% disobedient; 65% argumentative; 50% demanding attention; 6-8% adhd. Of the 10% with autistic disorder, ~ half have late regression with loss of language ~ 5 yrs., by which age > 50% of kids with ds are overweight. Low doses of Risperdal are used for irritability or aggression, monitoring wt. Gain & labs. ...Read more
Chromosome defect: Ds is one of the more common chromosome(c) defects that can survive pregnancy (many others miscarry).Eggs are supposed to have a single 21c & combine with the 21 from dads normal sperm.In ds the pair of moms 21c +dad's 21 creates a baby with the three 21c in all tissues.This extra material confuses the creation of body parts causing ds..Various prenatal tests can pick up signs early on. ...Read more
Mistake in chromosom: During the formation of normal eggs or sperm the chromosome(c) pairs are supposed to split leaving one of each in the egg/sperm.At conception the joining of egg/sperm brings together the pair & as tissue grows it has the proper number in each cell. With ds the egg has a pair of 21c and at conception a triple 21 is created. All cells derived after will have an extra 21 & become a ds child. ...Read more
Depends on parents: An unaffected mother or father could have a balanced(normal) set of chromasome material where a piece of one 21 chromasome is stuck on another.If the egg or sperm had the normal 21 and an extra 21piece hidden on another chromasome, they could pass it to the baby. It only takes an extra piece of 21 to cause ds.It is important to study ds to verify type, as translocation ds can recur each pregnany. ...Read more
No autosomal: Down syndrome happens when an extra 21 chromosome is present in all the cells of the body. It happens before conception when the donor egg fails to shed one of its 21 chromosomes in the formation of the egg & the male 21 joins the female pair & creates an embryo with 3 number 21's. It has nothing to do with traits or mutations in the gene code. ...Read more
Please be specific: When asking questions on the site please avoid using initials or labels that may have several interpretations. ASD could relate to a heart defect or autistic spectrum disorder as an example & the answer would differ significantly.Though ds patients can have the heart defect, autism spectrum label would be considered inappropriate for a ds patient even though some of the symptom features overlap. ...Read more
Many: Increased incidence of congenital heart disease, gastrointestinal problems such as atresia and hirschsprung's, nutrition with gasroesophageal reflux and aspiration, hypo or hyperthyroidism, and neurologic; mental retardation, joint laxity and hypotonia. Some Down syndrome have few problems, and some many problems. ...Read more
Doc should recognise: Down syndrome is one of the most recognizable patterns of any chromosome defect ; one that most doctors can recognize. There are a variety of internet sites with lists of features. If you have concerns you should share them with your physician.A chromosome test can confirm or exclude the diagnosis. ...Read more
Downs syndrome: Trisomy 21 when there is an extra chromosome at 21, mosaicism when some cells have trisomy and others not, robertson translocation [n which long arm of 21 chromosome is attached to another chromosome often chromosome 14. ...Read more