Comments on: Ask a Geneticist

By: Cindy

Cindy — Tue, 09 Apr 2013 02:38:52 +0000

My son was diagnosed at 18 years old with Crohn’s disease. It may be related to taking Accutaine. Since Crohns is usually hereditary I want to know if he will pass this to his children if he decides to have any.

By: Diane

Diane — Thu, 21 Mar 2013 17:21:46 +0000

germline mutation for marfan syndrome. I have a question, I have one daughter diagnosed with marfan syndrome. Her father is deceased (unrelated to marfan) and cannot be tested. I do not have the gene mutation by lab work. She has a half sister who has a DNA panel pending due to some of the systemic criteria, but not enough for diagnsois. So we are thinking possibly germline mutation. Is it possible for a germline mutation to be spontaneous like that?

By: Angela

Angela — Wed, 16 Jan 2013 03:38:59 +0000

how can my son who is 0+ and his girlfriend who is also 0+, have a baby with A+ blood type? Should i be talking to my son about dna testing?

By: Hua Tian

Hua Tian — Wed, 07 Mar 2012 18:42:45 +0000

I have a question about hair color. My husband and I are Chinese. We
have two children. My daughter’s hair color is
dark brown or black…like us. My son’s hair color is light yellow
(classic caucasian hair color). Except the hair color…my son is a
healthy & well grows kid. We wonder why his hair color is light
yellow. We talked to our pediatric doctor. He is not sure why…

My questions are…

1) Does anyone else have the same issue?
2) Does anyone know the answer?
3) What type of specialist should I see…Geneticist?

I really appreciate your help.

By: Vanessa

Vanessa — Mon, 12 Sep 2011 06:20:14 +0000

Hi I would like to know whether a mother of two kids who has lupus and rheumatoid arthritis (I have these two diseases after e birth of my first child) will pass on to my kids? I hesitate in having my third kid as I am 38 years old. Pls advise.

By: Vesna Bozic

Vesna Bozic — Mon, 28 Mar 2011 09:29:51 +0000

Dear Sir/Madam,

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.

By: Lance Alder

Lance Alder — Wed, 07 Oct 2009 00:19:29 +0000

Dear Sir / Madam,

Would you kindly reply to this general enquiry.

If a patient has been diagnosed with Angelmanâ€™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 Angelmanâ€™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.

By: Chris Wakeman

Chris Wakeman — Thu, 02 Apr 2009 19:46:09 +0000

Dear Sir / Madam,

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.

By: Valerie Soto

Valerie Soto — Wed, 12 Mar 2008 23:39:24 +0000

My daughter was diagnosed at 22 months with infantile autism. At 18 months old she regressed. She lost speech, social interaction, and started these very odd repetitive behaviors. Her pediatrician ordered a battery of tests and the tests came back with high levels of beta alanine and other elevated amino acids. We just saw a genetics specialist and they have since diagnosed her with hyper beta-alaninemia. My problem is I have no clue about this disorder and we are trying to get some basic information. Is this disorder a urea cycle disorder? We have tried to goggle the diagnosis but nothing specific pops up.

By: Amy

Amy — Wed, 13 Feb 2008 03:47:47 +0000

Hi,

I want to know how Amyâ€™s relation title to Ervan, and Joyâ€™s relation Title to Ervan.

- Amy & Joyâ€™s moms are sisters, so Amy and Joy are cousins.
- Joyâ€™s fatherâ€™s motherâ€™s brotherâ€™s daughterâ€™s marries Ervanâ€™s momâ€™s brother, so they have a child named Alex.
- So Joy shares the same great-grandparents with Alex.
- So Basically, Joyâ€™s grandma on her dadâ€™s side is distantly related to Ervan.
- Based on these connections, what is Amyâ€™s relation title to Ervan, and if they are related at all.
- What is Joyâ€™s relation title to Ervan and are they relatives?

Thanks,

Amy