Special Needs

Articles

...was diagnosed with Isodicentric 15, which is a chromosome abnormality in which the 15th chromosome has...with Isodicentric 15, which is a chromosome abnormality in which the 15th chromosome has a partial duplication....is a chromosome abnormality in which the 15th chromosome has a partial duplication. As a result, Annabel...

...appointment after the autism diagnosis. Chromosomal microarray, she says, can sometimes...or whether it changes anything. Chromosomal microarray (CMA) testing finds copy...10% of children with autism have a chromosomal abnormality detected by CMA. That...children with autism have a chromosomal abnormality detected by CMA. That finding might...

...raising a child with Down syndrome are even greater. Down syndrome is a chromosomal abnormality that causes intellectual and developmental delays. It occurs...child with Down syndrome are even greater. Down syndrome is a chromosomal abnormality that causes intellectual and developmental delays. It occurs in about...

...been told their child has autism linked to a specific genetic variant or chromosomal abnormality. But no treatments exist because each genetic profile seemed...child has autism linked to a specific genetic variant or chromosomal abnormality. But no treatments exist because each genetic profile seemed unique. Hundreds...

...Is at Risk. The dystrophin gene sits on the X chromosome. Boys have one X, so a single broken copy leaves...dystrophin, and Duchenne follows. Women have two X chromosomes, and a carrier has one healthy copy and one mutated...body permanently switches off one of its two X chromosomes, chosen at random. Some cells silence the mutated...

...fewer than 25% of cases. The yield depends heavily on which test was run. Chromosomal microarray, which looks for missing or duplicated chunks of chromosome,...Chromosomal microarray, which looks for missing or duplicated chunks of chromosome, identifies a cause in roughly 10% of autistic children. Whole genome...

...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...

...Down syndrome's link to heart conditions originates in the earliest stages of development. Individuals with Down syndrome possess an extra copy of chromosome 21. This genetic variance can also affect heart development, leading to anomalies such as atrioventricular septal defects, ventricular septal defects,...

...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...

...caused by the presence of an extra chromosome 21 in the cells of the body. This...the cells of the body. This extra chromosome results in the characteristic features...individual has a full or partial copy of chromosome 21. This extra chromosome results...copy of chromosome 21. This extra chromosome results in the characteristic features...

...condition in which an individual has 47 chromosomes instead of 46. In most cases, an...In most cases, an extra copy of chromosome 21 is the cause of Down syndrome....syndrome. This extra copy of the chromosome affects typical mental and physical...syndrome is the most commonly occurring chromosomal condition, and according to the...

...daughter is different in that she has an extra chromosome. (But really, how "different" is she? A lot of...people out there have an extra — or even missing — chromosome. There are other people who have a single simian...delays.) She is "different" because that extra chromosome automatically gave her a label of Down syndrome,...