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Medical > Cardiology
Health Prognosis: Cardiac Concerns in People with Down Syndrome
...of development. Individuals with Down syndrome possess an extra copy of chromosome 21. This genetic variance can also affect heart development, leading to...development. Individuals with Down syndrome possess an extra copy of chromosome 21. This genetic variance can also affect heart development, leading to anomalies...
Special Needs > Down Syndrome
The Challenges Of Parenting A Child With Down Syndrome
...presence of an extra chromosome 21 in the cells of the...of an extra chromosome 21 in the cells of the body....the body. This extra chromosome results in the characteristic...full or partial copy of chromosome 21. This extra chromosome...partial copy of chromosome 21. This extra chromosome...chromosome 21. This extra chromosome results in the characteristic...
Special Needs > Down Syndrome
What is Down Syndrome?
...syndrome, also called Trisomy 21, is a genetic condition...an individual has 47 chromosomes instead of 46. In most...cases, an extra copy of chromosome 21 is the cause of Down...extra copy of chromosome 21 is the cause of Down...This extra copy of the chromosome affects typical mental...most commonly occurring chromosomal condition, and according...
Special Needs > General Special Needs
Different, Not Less
...different in that she has an extra chromosome. (But really, how "different" is she?...have an extra — or even missing — chromosome. There are other people who have a...is "different" because that extra chromosome automatically gave her a label of...syndrome, or in medical terms, Trisomy 21. Unfortunately, society thinks of...
Research > Genetics
Chromosomal Microarray vs. Whole Genome Sequencing: Which Genetic Test Is Right for Your Child?
...recommended genetic testing. The referral says "chromosomal microarray" but when you called to schedule,...you wait for answers. What Each Test Detects. Chromosomal microarray (CMA) looks for chunks of DNA that...base pairs, which is enough to identify most chromosome disorders. CMA is the test that finds conditions...
Special Needs > Rare Disorders
What Is Williams Syndrome?
...art. They are also known for their outgoing personality and friendliness toward strangers. Williams syndrome is caused by the deletion of genes on chromosome 7. The disorder is diagnosed using DNA testing. There is no cure for Williams syndrome, but affected individuals can lead happy and fulfilling lives...
Special Needs > General Special Needs
Our Special Lives – Annabel
...Sarah and Mike. Annabel was diagnosed with Isodicentric 15, which is a chromosome abnormality in which the 15th chromosome has a partial duplication. As...with Isodicentric 15, which is a chromosome abnormality in which the 15th chromosome has a partial duplication. As a result, Annabel has mild to moderate autism....
Special Needs > Rare Disorders
What is Angelman Syndrome?
...Angelman Syndrome is connected with the number 15 chromosome. Most often, a portion of this chromosome is...15 chromosome. Most often, a portion of this chromosome is deleted, which results in Angelman Syndrome....causes include two paternally derived number 15 chromosomes, a mutation, or imprinting center deficit. These...
Research > Genetics
Understanding Genetic Testing for Autism, Cerebral Palsy, and Developmental Disabilities: A Parent's Guide
...palsy describes your child's symptoms and developmental pattern. It doesn't always explain the root cause. Genetic testing looks for changes in chromosomes or genes that could be driving those symptoms. Finding a genetic cause can open doors you didn't know existed. A specific genetic diagnosis may qualify...
Special Needs > Down Syndrome
Our Special Lives – Down Syndrome
...Scott and their two-year old daughter Maddox and new baby MacGregor. Maddox has Robertsonian Translocation Down Syndrome, which means two of her chromosomes fused together. Jamie describes Maddox as "very cheerful, happy, witty. She's two, so she's also terrible at times." "When Maddox came out they...
Special Needs > Down Syndrome
The Joys Of Parenting A Child With Down Syndrome
...challenges faced by both are great. But the love and pride that come with raising a child with Down syndrome are even greater. Down syndrome is a chromosomal abnormality that causes intellectual and developmental delays. It occurs in about one in every 700 births. Most children with Down syndrome have...
Parenting > The Early Years
Managing Pregnancy When Baby Isn't Perfect
...defined as abnormal structure, function, or body chemistry, which lead to death or physical/mental disabilities. Birth defects are caused by genetics (chromosomal problems or gene mutations) or environmental factors (such as exposure to certain chemicals, infections, drugs–prescription as well as illegal–or...