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Doctor insights on: Mosaic Down Syndrome Symptoms

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What are the symptoms of down syndrome?

What are the symptoms of down syndrome?

See below: Flat face, hypotonia, and intellectual disability. One third of patients develop congenital heart defect (s).

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Dr. Kathryn Akin
651 Doctors shared insights

Down Syndrome (Definition)

A genetic chromosome 21 disorder causing ...Read more


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Are there limited symptoms of down syndrome?

Are there limited symptoms of down syndrome?

Yes: There are high functioning down's and then there are children more severely affected.

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Description and symptoms of kids with down syndrome?

Description and symptoms of kids with down syndrome?

Many criteria: 1. Epicanthic folds give the superficial impression of mongoloid appearance. 2. A staight across palmar crease like that of an ape so it is called a symian crease.3. Obvious developmental delay.4.Often a tongue that seems to be too big for mouth.

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What are symptoms of major diseases in down syndrome?

What are symptoms of major diseases in down syndrome?

Variable: The most significant symptoms happen if the child with down's has cardiac defects. Some of these defects may require surgery. Immunity issues may exist that predipose to infection and/or leukemia (a blood cancer).

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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.

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What are the signs and symptoms of down syndrome?

What are the signs and symptoms of down syndrome?

Down's syndrome: Delayed maturation of brain & body, result in small chin, oblique eye fissures with skin folds on inner corners of the eyes, flat nasal bridge, poor muscle tone, protruding tongue, flat face, short neck, lax joints, larger space between big toe & second toe, short fingers, short stature & bowed legs, obesity as they grow older.

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What are the symptoms and treatments of down syndrome?

Long story!: The problem is duplication of genetic material (chromosome 21) in every cell of the body. There are facial features, heart problems, reduced muscle tone, and spinal, gi, ent, thyroid and blood-related issues as well. The biggest issue is mental deficiency. Ongoing surveillance and intervention by your pediatrician are important. So is developmental and school-based help.

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What are the most common signs and symptoms of down syndrome?

Facial character: It is typically associated with a delay in cognitive ability (mental retardation, or mr) and physical growth, and a particular set of facial characteristics. The average iq of young adults with down syndrome is around 50, whereas young adults without the condition typically have an iq of 100.

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Need expert help here. What are some symptoms that Down syndrome patients have?

Need expert help here. What are some symptoms that Down syndrome patients have?

Many: Down syndrome patients may have prominent tongue, joint laxity and hypotonia, congenital heart defects, hyper or hypothyroidism, gastrointestinal issues including aspiration and ge reflux, neurologic mental retardation, constipation and hirschsprung's disease, congenital bowel issues (bowel atresias). Some with mild symptoms and findings and others more severe.

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What are the signs and symptoms of Down syndrome and what can be done to fix it?

See NIH website: See: www. Nchi. Nlm. Nih. Gov/pubmedhealth/pmh0001992/ for a full review. Down syndrome results when a kid is born with too much chromosome material in his/her cells which confuses the system & results in anomalies & poor development. It cannot be fixed, but outcome can be improved with attention to associated problems.

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What are the fetal sign and symptoms of down syndrome?

What are the fetal sign and symptoms of down syndrome?

Maternal serum: Screening at 10-14 weeks + fetal ultrasound (fus) at 11-14 weeks + maternal "quad" screen at 16 weeks detects ~ 95% of fetuses with down syndrome with <5% false-positive rate. Increased size of the fluid-filled space at the nape of the neck & abnormalities of blood flow in the heart are signs on early fus. Diagnostic testing is chorionic villus sampling at 10-12 weeks or amnio at 15-18 weeks.

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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.

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Are short toes a symptom of down syndrome?

Are short toes a symptom of down syndrome?

Yes: Short toes and spacing between the great toe and second toe are commonly seen in patients with down syndrome.

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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.

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What are the symptoms of heart disease in down syndrome?

What are the symptoms of heart disease in down syndrome?

Multiple symptoms: Down syndrome can have multiple congenital heart disease which includes atrial septal defect, hypoplastic left ventricle, tetrology of fallot, transposition of great vessels and ventricular septal defect. Some defects can have very few or no sign and symtoms while other may have bluish tinted nails or lips or fast or trouble or others may tire easily when feedind, or to be very sleepy.

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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

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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.

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What causes down syndrome?

DNA defects: Chromosome 21 seems to be the cause. Two most common types are trisomy 21 where ther is an entire extra chromosome in each cell. The other is translocation where only an extra piece of the chromosome is found. It can be an isolated defect or an inherited defect. Rare exotic forms include polyploidy and haploid forms and chimeras. Sorry you asked?

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Is Down syndrome inherited?

Is Down syndrome inherited?

Not usually: The only way to inherit down syndrome is if one parent has down syndrome and passes 2 copies of chromosome 21. Few people with ds reproduce, so that is not usually a factor.

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How is down syndrome treated?

Medical/education: Children with Downs Syndrome have special medical and educational needs that should be determined in each individual. Doctors and Psychologists or educational specialists can determine what the needs are and how best to meet them.

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