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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). ...Read more

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Dr. Kathryn Akin
645 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. ...Read more

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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. ...Read more

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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). ...Read more

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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

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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. ...Read more

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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. ...Read more

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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. ...Read more

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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. ...Read more

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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. ...Read more

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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. ...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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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. ...Read more