Disorder: Smith-Magenis Syndrome
- Name of Disorder. Are there any other names? Brief summary of the condition.
- Symptoms of the disorder. What mental, physical, developmental, etc. issues does an individual with this condition have?
- Abnormal chromosome number or structure? Expand on this by explaining the type of error (inversion, deletion, trisomy, monosomy, etc.). What stage of meiosis does this happen in? Which chromosome/s impacted? What are the total number of chromosomes in the individual? If the issue is on a sex chromosome, is the individual assigned male or female at birth (based solely on genetics)?
- Cause or source of meiotic error? Please tell us what is known about the cause of this disorder? Has it been linked to particular environmental factors? Maternal age? Paternal age? Is it inherited or de novo? Something else???
- Frequency of occurrence: how many people have it? 1 out of how many births? Provide some statistics on survival rates, life span, etc.
- How/when is it diagnosed? Can it be detected in a prenatal screening? Any treatments?
- Include an image of a KARYOTYPE-not an image of an individual with the disorder, but a picture of the chromosomes/chromosome structure. Need image only of chromosomes.
