Top
10
Doctor insights on: Chromosome Specific Probe

Share
1

1
Can you tell me is hurler's syndrome nondisjunction, a sex-linked disorder or a type of mutation in a specific chromosome?

Can you tell me is hurler's syndrome nondisjunction, a sex-linked disorder or a type of mutation in a specific chromosome?

Recessive disorder: Hurler syndrome is caused by a mutation in idua gene located in chromosome #4. It is an autosomal recessive condition which means that one has both copies of the gene changed, the one inherited from father, and the one from mother. Parents are thus carriers of the condition. ...Read more

2

2
What exactly is albinism? Is it a genetic or disorder or a chromosomal abnormality?

What exactly is albinism? Is it a genetic or disorder or a chromosomal abnormality?

Biological inheritan: Most forms of albinism are the result of the biological inheritance of genetically recessive alleles (genes) passed from both parents of an individual, though some rare forms are inherited from only one parent. There are other genetic mutations which are proven to be associated with albinism. All alterations, however, lead to changes in melanin production in the body. ...Read more

3

3
Does anyone know what 6q27 duplication could entail? I can't fibd any information on this particular chromosome. Thanks!

Does anyone know what 6q27 duplication could entail? I can't fibd any information on this particular chromosome. Thanks!

Repeat of part of 6: It means that a sequence on the place designated 27 on the long arm of chromosome 6 is duplicated with or without detectable phenotypic consequences. ...Read more

See 1 more doctor answer
4

4
For the pressure test is the test supposed to be performed by bending their knee or keeping their legs straight? Which test gives you better results? Measuring the compartments by using a needle or the probe? Thanks in advance

For the pressure test is the test supposed  to be performed by bending their knee or keeping their legs straight? Which test gives  you better results? Measuring the compartments by using a needle or the probe? Thanks in advance

Compartment pressure: Compartment pressure measurements are performed at baseline with follow up measurements after 5 minutes of running. Needle placement is performed in all four compartments --anterior, lateral, posterior and deep posterior regions of the leg. A baseline blood pressure allows one to assure that the pressure measurements can be properly interpreted. ...Read more

5

5
Are life-threatening chromosomal disorders usually detected in early infancy? Would a 2 yo have already shown signs if there is was serious problem?

Are life-threatening chromosomal disorders usually detected in early infancy? Would a 2 yo have already shown signs if there is was serious problem?

Yes: The normal impact of chromosome abnormalities is the interruption of complex fetal organ development. Too many or too few genes change the process.The heart/brain/facial features/hands & feet are all complex & usually show the effects.Some kids escape defects in one area but show them in another. Most are evident within the first months but some less threatening defects can escape early detection. ...Read more

See 1 more doctor answer
6

6
What happens at a transvaginal ultrasound? Does it hurt? How big is the probe? Will it be different because I have vaginismus? I'm scared.

What happens at a transvaginal ultrasound? Does it hurt? How big is the probe? Will it be different because I have vaginismus? I'm scared.

Don't Worry!: If you are able to engage in vaginal intercourse then a transvaginal ultrasound should not be a big deal. The probe is about a foot long and no more than an inch in diameter. The probe is covered in a condom and lubricated with gel. You may insert it if you ask. It is advanced to the cervix and moved to see the uterus and ovaries. Many women like the tv exam better since the bladder isn't full. ...Read more

7

7
What are some diseases that are the result of chromosomal abnormalities?

What are some diseases that are the result of chromosomal abnormalities?

Aneuploidies.: Down syndrome (trisomy 21 - mongolism), edwards' syndrome (trisomy 18 - lethal), patau syndrome (trisomy 13 - lethal), turner syndrome (monosomy x), digeorge syndrome (microdeletion 22q11 - velocardiofacial syndrome), wolff-hirschhorn, cri-du-chat syndromes, etc. ...Read more

8

8
What does it mean if a child has an extra chromosome?

What does it mean if a child has an extra chromosome?

A genetic accident: Human cells are supposed to have 23 chromosomes from father's sperm that pair up with 23 chromosomes from mother's egg. If either donation has an extra chromosome because of a genetic error, it is passed along to the fetus most common extra chromosomes in live births are on 13, 18 and 21. They cause unusual physical features, intellectual disability and, sometimes, organ malformations. ...Read more

See 2 more doctor answers
9

9
Will a colorblind woman always have colorblind children? I know the cause is a mutation on the x-chromosome and a woman has to have the mutation on both her x’s. So that means all her children will have the colorblind gene. So will her children all be col

Will a colorblind woman always have colorblind children? I know the cause is a mutation on the x-chromosome and a woman has to have the mutation on both her x’s. So that means all her children will have the colorblind gene. So will her children all be col

Her : Her male children will be colorblind because all of her male children will have one of her x's with the colorblindness gene and a y from the dad that cannot cancel out the colorblindness gene on her x. If she has children with a man who is not colorblind than her daughters will carry the gene, but not be colorblind themselves since they'll have a normal x from their dad to cancel out their mom's x with the colorblindness gene. If she has children with a man who is colorblind, then her daughters will be colorblind also. This is why colorblindness is much more common in men than in women. Legal disclaimer: I am providing this general and basic information as a public service and my response to this question does not constitute a doctor-patient relationship. For any additional information, advice, or specific concerns, please speak with your own physician. The information provided is current as of the date of the answer entry. ...Read more

See 1 more doctor answer
10

10
My son is 2 & just had chromosome test b/c facial features such as small jaw & high palate &he's not speaking well .He smart understands me well. Dr says just precaution. Are these serious disorders?

My son is 2 & just had chromosome test b/c facial features such as small jaw & high palate &he's not speaking well .He smart understands me well.  Dr says just precaution. Are these serious disorders?

Try not to fret.: Some syndromes do not have intellectual disability as part of their neurodevelopmental profile, & some do. The newer genetic microarray tests yield more information than chromosome analysis. Call your state health division's early intervention program for free assessment of all areas of your son's development. He'll benefit from therapy now, even if it's an isolated expressive language delay. ...Read more

See 2 more doctor answers