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Doctor insights on: Mosaic Down Syndrome Characteristics

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Do you think an adult could have mosaic down syndrome?

Do you think an adult could have mosaic down syndrome?

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

Dr. Kathryn Akin
641 doctors shared insights

Down Syndrome (Definition)

Down syndrome is the classic presentation clinically of the congenital malformation syndrome also known as Trisomy 21. Classic features may include simian creases, epicanthal folds, upslanting palpebral fissures, flat nasal bridge, hypertelorism, low set ears, endocardial cushion defects of the heart, atlanto-axial joint instability, blood ...Read more


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What are the characteristics of Down syndrome in children?

What are the characteristics of Down syndrome in children?

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

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Please tell me the characteristics of Down syndrome for a baby?

Please tell me the characteristics of Down syndrome for a baby?

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

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Do people with Down syndrome always have the physical characteristics?

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

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Do those who have Down syndrome always have the physical characteristics to show it?

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

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Grandauhter has epicanthal folds, does not have down syndrome. Has 1/2 brother with d.S. Is this merely a characteristic inherited from him?

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

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How to know if the baby is Down syndrome or mosaic down without blood test?

How to know if the baby is Down syndrome or mosaic down without blood test?

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

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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

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I am doing a presentation for my class on down syndrome and I need to know why it isn't dominant or recessive. P.S. I need a simplified answer

Seek info here: Lots of HT doctors have answered this for others - here's a start. Just dig a bit further, but it's a good reply. Source: HealthTap, https://edc1.healthtap.com/user_questions/22610 ...Read more

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What is down syndrome?

What is down syndrome?

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.Here a pair of moms 21c +dad's 21 creates a baby with the extra 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