I had CVS on March 23 and received the result the next day. Is it possible to get the complete result in just one day, or is it more likely it’s just the preliminary result? The clinic is claiming this is the final definite result and that all chromosomes have been checked and not just the ones with most commonly occuring abnormalities. I would greatly appreciate it if you could tell me if it’s possible to check for all chromosomal abnormalities in just one day. Thank you very much.

Kind regards,

Vesna

PS They told me all 46 chromosomes are normal XY.

Would you kindly reply to this general enquiry.

If a patient has been diagnosed with Angelman’s Syndrome with the mechanism parental uniparental disomy at 14 years of age, what would be the clinical features of this patient, for example, would the patient be able to:

1. Talk or sign language.
2. Walk by themselves
3. Dress themselves.
4. Feed themselves.
5. Toilet themselves.
6. Assist with household chores, etc.

If a patient has been diagnosed with Angelman’s Syndrome with the mechanism the maternal deletion, what would be the clinical features of this patient. And do all these patients with both these mechanisms have forward progression no loss of skills. And are they able to use their hands.

I look forward to your reply.

Kind regards.

Lance Alder.

Would you kindly advise me if a FISH test for Angelman’s Syndrome shows both the maternal and paternal copies of chromsome 15?

Or does the FISH test only show the deletions or microdletions in the maternal copy of chromosome 15?

I look forward to your reply.

Kind regards,

Chris Wakeman.

I want to know how Amy’s relation title to Ervan, and Joy’s relation Title to Ervan.

- Amy & Joy’s moms are sisters, so Amy and Joy are cousins.
- Joy’s father’s mother’s brother’s daughter’s marries Ervan’s mom’s brother, so they have a child named Alex.
- So Joy shares the same great-grandparents with Alex.
- So Basically, Joy’s grandma on her dad’s side is distantly related to Ervan.
- Based on these connections, what is Amy’s relation title to Ervan, and if they are related at all.
- What is Joy’s relation title to Ervan and are they relatives?

Thanks,

Amy

I want to know how Amy’s relation title to Ervan, and Joy’s relation Title to Ervan.

- Amy & Joy’s moms are sisters, so Amy and Joy are cousins.
- Joy’s father’s mother’s brother’s daughter’s marries Ervan’s mom’s brother, so they have a child named Alex.
- So Joy shares the same great-grandparents with Alex.
- So Basically, Joy’s grandma on her dad’s side is distantly related to Ervan.
- Based on these connections, what is Amy’s relation title to Ervan, and if they are related at all.
- What is Joy’s relation title to Ervan and are they relatives?

Thanks,

Amy