Top
20
Doctor insights on: Down Syndrome Awareness Ribbon

Share
1

1
Is down syndrome sex-linked or autosomal?

Is down syndrome sex-linked or autosomal?

Down Syndrome: Down syndrome, also known as Trisomy 21, is an autosomal genetic disorder. Down syndrome occurs when a person has a full or partial copy of chromosome 21. ...Read more

See 2 more doctor answers
Dr. Kathryn Akin
654 doctors shared insights

Down Syndrome (Definition)

A genetic chromosome 21 disorder causing ...Read more


2

2
What is considered frantic fetal movement? 29w5d baby makes some sudden, repetitive, hard movements that shake me over. Like jabs. Distress? Seizures?

What is considered frantic fetal movement? 29w5d baby makes some sudden, repetitive, hard movements that shake me over. Like jabs. Distress? Seizures?

Get checked: Many innocent things can cause these sensations but when it comes to pregnancy i would err on the side of caution. It is wise to see your doctor if you think the baby is acting abnormally. ...Read more

3

3
Down syndrome is autosomal dominat?

Down syndrome is autosomal dominat?

No autosomal: Down syndrome happens when an extra 21 chromosome is present in all the cells of the body. It happens before conception when the donor egg fails to shed one of its 21 chromosomes in the formation of the egg & the male 21 joins the female pair & creates an embryo with 3 number 21's. It has nothing to do with traits or mutations in the gene code. ...Read more

See 1 more doctor answer
4

4
Is Down syndrome inherited?

Is Down syndrome inherited?

Not usually: The only way to inherit down syndrome is if one parent has down syndrome and passes 2 copies of chromosome 21. Few people with ds reproduce, so that is not usually a factor. ...Read more

See 3 more doctor answers
5

5
What's the relationship between trisomy 21 and down syndrome?

What's the relationship between trisomy 21 and down syndrome?

Name game: Dr.Langdon Down worked at a home for the retarded in Britain in the 1800's.He was credited for the first published description of the syndrome that would carry his name. After the human chromosomes were identified and numbered in the 1950's, DS was studied and trisomy 21 was identified in most. Later studies show an extra piece of a specific area of the 21 is all that is needed to have DS. ...Read more

See 2 more doctor answers
7

7
Is down syndrome autosomal or sex linked?

Is down syndrome autosomal or sex linked?

None of the above: Down syndrome happens when an extra 21 chromosome is present in all the cells of the body. It happens before conception when the donor egg fails to shed one of its 21 chromosomes in the formation of the egg; the male 21 joins the female pair & creates an embryo with 3 number 21's. It has nothing to do with traits or mutations in the gene code. ...Read more

See 1 more doctor answer
8

8
Large abdomen in utero sign of down syndrome?

Large abdomen in utero sign of down syndrome?

Unlikely: Thick umbilical cord or short thigh length with positive quad screening is often noted in fetus with down syndrome. ...Read more

9

9
Is Down syndrome dominant or recessive?

Neither: Down syndrome happens when an extra 21 chromosome is present in all the cells of the body. It happens before conception when the donor egg fails to shed one of its 21 chromosomes in the formation of the egg & the male 21 joins the female pair & creates an embryo with 3 number 21's. ...Read more

10

10
Is Down syndrome sex linked/recessive/or dominant?

Is Down syndrome sex linked/recessive/or dominant?

None of the above: Down syndrome happens when an extra 21 chromosome is present in all the cells of the body. It happens before conception when the donor egg fails to shed one of its 21 chromosomes in the formation of the egg; the male 21 joins the female pair & creates an embryo with 3 number 21's. It has nothing to do with traits or mutations in the gene code. ...Read more

11

11
Are low set ears a telltale sign of downs syndrome?

Are low set ears a telltale sign of downs syndrome?

No: Relatively low ear placement is not limited to down syndrome patients and not all ds individuals demonstrate the anomaly. ...Read more

12

12
Is fragile x syndrome the same degree of retardation as down syndrome?

Is fragile x syndrome the same degree of retardation as down syndrome?

Variable: They are both "genetic" conditions but they are different in the spectrum of issues they present-. People with fragile x may have subtle cognitive impairments all depending on how affected the fmr1 gene is. People with downs have an extra chromosome and kids have delayed cognition as well as physical growth and frequently heart problems.. They both may exhibit autistic traits, more so fagile x. ...Read more

13

13
What is "Horizontal axis, RSR' pattern in V1 and V2, low QRS voltages in precordial leads" suggestive of? IRBBB? Brugada? Malposition of electrodes?

What is "Horizontal axis, RSR' pattern in V1 and V2, low QRS voltages in precordial leads" suggestive of? IRBBB? Brugada? Malposition of electrodes?

None of the above: Your question seems desperate in trying to find a diagnosis. The EKG, while unusual, are just findings. In the absence of a pattern if symptoms, they mean nothing. While an rSR' pattern could be from a BBB (bundle branch block) it could be from lead placement as well. Brugada is a syndrome of different findings over time. A single EKG can't make a Dx. Also no mention of QT, & low voltage suggests ...Read more

17

17
Left testicle ache, on and off daily, somewhat correlated with cremaster reflex like bowel movement or erection, sometimes sitting, i'm 34.?

Left testicle ache, on and off daily, somewhat correlated with cremaster reflex like bowel movement or erection, sometimes sitting, i'm 34.?

Doctor can evaluate: Testicles should not ache for no reason, so a primary care doctor can check, and refer to a urologist and send for a testicular ultrasound scan if needed. Testicle area aches and pains can be due to too much motion during sports (lack of a jock strap), an inguinal hernia, prolonged erections, trauma (getting hit/kicked), torsion (an emergency), certain infections, testicular cancer, etc... ...Read more

18

18
Babys in womb with Down syndrome have short limbs?

Babys in womb with Down syndrome have short limbs?

Yes.: Checking limb length on ultrasound can be one of the ways to screen for downs syndrome. ...Read more

20

20
Looking for Down syndrome due to endocardial cushion defect. Why?

Looking for Down syndrome due to endocardial cushion defect. Why?

Very common problem : Endocardial cushion defects are often seen in down syndrome. If it is detected prenatally, you would want a test to check if the baby has down syndrome. ...Read more