Top
30
Doctor insights on: Chromosome 13 Abnormality

Share
2

2
On 7&half we TVS shows 2 yolk sac, one with cardiac activity, other is empty. CRL is 1.13 cm. Is possibility of chromosomal abnormality?

On 7&half we TVS shows 2 yolk sac, one with cardiac activity, other is empty. CRL is 1.13 cm. Is possibility of chromosomal abnormality?

Always possible: The transvaginal ultrasound at 7.5 weeks does not rule in or out a chromosomal abnormality. It is believed that there are a lot more twins conceived than born and one twin just dies very early and this may be the cause of some first trimester bleeding. Only with early ultrasounds are we finding these 'vanishing twins'. This may be the case with your empty yolk sac. The other twin is usually normal ...Read more

3

3
Chromosomes abnormality 45xy, der (13;14) (q10; q10) How to get pregnant with good baby?

Chromosomes abnormality 45xy, der (13;14) (q10; q10) How to get pregnant with good baby?

Abnormal chromsomes: I assume you are male (45xy) and wish advice on pregnancy with your genetic abnormality and are probably phenotypically asymptomatic. I would encourage compassionate genetic counseling.
Carriers of Robertsonian translocations have normal phenotype, but can have problem of infertility associated with more or less severe oligospermia in male adults3-5%). ...Read more

4

4
What happens if there's an abnormality on a chromosome?

Depends on which: One. It could cause a number of different medical conditions or could be lethal. ...Read more

5

5
There is absence of chromosomal 15 in me. Is my offspring will be normal? If not then tell me thee abnormality ratio. Plz please

There is absence of chromosomal 15 in me. Is my offspring will be normal? If not then tell me thee abnormality ratio. Plz please

Baby may be abnormal: If a person is missing a piece of chromosome 15, that missing piece probably got attached to another chromosome, thus allowing her to function normally enough to use this healthtap website. Unfortunately, both chromosomes (the one missing a piece and the one that received the missing piece) are abnormal. Offspring are likely to receive one or both of the defective chromosomes. Geneticist can help. ...Read more

6

6
What sort of disease is a chromosomal abnormality?

What sort of disease is a chromosomal abnormality?

Genetic: Chromosomal abnormalities can include extra or missing chromosomes. I will refer this to experts in medical genetics for more information. ...Read more

7

7
Can you please say something about Chromosomal Abnormality?

Can you please say something about Chromosomal Abnormality?

Bad news: This material is the library of information the fetus needs to develop organs and metabolic systems. Too much or too little means something will go wrong. Since many defects are relatively unique, the outcome may or may not be predictable. Some will trigger spontaneous miscarriage. Some are born and live a long life but have many problems along the way. ...Read more

8

8
What's the most common chromosomal abnormality syndrome in humans?

What's the most common chromosomal abnormality syndrome in humans?

Down syndrome.: The most common chromosomal abnormality in a newborn population was trisomy 21 (down), with an incidence of 1 in 730 live births. Abnormalities of the sex chromosomes (eg, monosomy x or turner, xxy, xyy, xxx) and structural balanced rearrangements also occurred frequently. Trisomy 16 is the most common aneuploidy in abortuses. Trisomy 18 (edwards), and 13 (patau) are most common in stillborns. ...Read more

9

9
Is it true that the chances of having a child with a chromosomal abnormality increases as a womans age increases over 40 year?

Is it true that the chances of having a child with a chromosomal abnormality increases as a womans age increases over 40 year?

Yes: It actually increases to a small degree with every year after peak fertility in the mid 20's. At 40 the risk of a trisomy 21 Down syndrome reaches 1% while at 45 it reaches 2%. This number is added to the random risk of 4% that any pregnancy has of an unexpected event (cleft palate, premi, other defect). ...Read more

10

10
Is osteogenesis imperfecta considered a chromosomal abnormality?

Is osteogenesis imperfecta considered a chromosomal abnormality?

No - a mutation.: Osteogenesis imperfecta is a genetic anomaly that in 90% of cases is due to a mutation in the col1a1, col1a2 genes of type I collagen. It is not a chromosomal anomaly. ...Read more

12

12
What is the main cause of chromosomal abnormality in fetus?

Defect in gamete: Either the egg (usually) or sperm carries an extra chromosome (chm) to conception. The fetus ends up with 3 of that chm along with normal pairs of all the others. The third chm will cause a disruption in the code reading that goes into making the organs and brain. The newborn will be born with these defects. ...Read more

13

13
What is the difference between a mutation and a chromosomal abnormality?

What is the difference between a mutation and a chromosomal abnormality?

Size.: Mutations are strategically placed minute changes in dna that change the message encoded in it to produce abnormal proteins and pathological symptoms. Chromosomal abnormalities (e.g. Down syndrome), are larger changes in the number of dna packages (chromosomes) each cell carries, so that many organ systems malfunction (brain, heart, bone marrow, etc). ...Read more

14

14
Chances of miscarriage after a miscarriage with chromosome abnormality?

Chances of miscarriage after a miscarriage with chromosome abnormality?

See below: After 1 miscarriage, the chances don't change...Still around 5-10% depending on the study. ...Read more

15

15
What are the chances of a second miscarriage due to chromosome abnormality?

What are the chances of a second miscarriage due to chromosome abnormality?

Dependsonabnormality: Actually depends on where the abnormality came from (parent or not). If it is pre-existing in either parent, chances of recurrence can be as high as 100% in a fusion chromosome between the X chromosome and a non-X chromosome. If it is a new anomaly, chance are almost background, although seeing something once always raises the possibility of seeing it, or something like it, again. Can't generalize ...Read more

16

16
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

17

17
Could an abnormality in a parents chromosome 8 be hereditary? She developed mds and died from it.

Yes: An abnormality on any chromosome can be hereditary, as our chromosomes carry the genetic material that we give to our children. Not all chromosomal abnormalities, however, are genetically received. Some can happen spontaneously. ...Read more

18

18
Mc in 1st trim, may b because of mismatch chromosome or chromosomal abnormality, means chances of next child 2 b born with chromosomal defects r more?

Mc in 1st trim, may b because of mismatch chromosome or chromosomal abnormality, means chances of next child 2 b born with chromosomal defects r more?

Not on the internet: That specific question cannot possibly be answered on the internet. You need a geneticist to do the right tests and provide you with a competent consolation or evaluation. ...Read more

19

19
Hi, I'm born in a family of 4 grown up boys. How is it that I am the only one having chromosomal abnormality leading to azoospermia? The rest are fine.

No reason: Most of chromosomal abnormalities do not follow a specific pattern. Specific gene transfers to next generations follow darwin's proposed laws. But chromosomes don't follow those laws. They can be very sporadic. However they seem to be affected by parents' age. ...Read more

20

20
If a mother had a abnormality with chromosome 8 say (trisometry or missing) she developed mds. Are her children grandchildren at risk of getting mds?

If a mother had a abnormality with chromosome 8 say (trisometry or missing) she developed mds. Are her children grandchildren at risk of getting mds?

Not likely: Trisomy 8 is a common chromosomal abnormality in mds patients and is likely an acquired event. This is different from trisomy 8 (warkany) syndrome which is an inherited disorder. ...Read more

22

22
Help! Is multiple sclerosis a result of single or multiple gene disorder or a chromosomal abnormality?

Help! Is multiple sclerosis a result of single or multiple gene disorder or a chromosomal abnormality?

Not genetic mostly: There are no signs that multiple sclerosis is a sign of a chromosome disorder. Although there is likely a genetic component, this appears to be a very small role. This is not the type of disease where if you have the gene, you get the disease. It tends to be sporadic. It is an auto-immune disease where antibodies attack the white matter of the brain and/or spinal cord. ...Read more

23

23
Chromosomal mutation in my right foot. I am now pregnant and I worry that this abnormality can be carried over to my child. What is the risk?

Chromosomal mutation in my right foot. I am now pregnant and I worry that this abnormality can be carried over to my child. What is the risk?

Unknown: Without a specific DX it is impossible to offer any suggestions on recurrence risk. Your best source of information will be a geneticist who can review the condition and any genetic factors along with the other genetic input from both sides of the family to give you a sence of what could happen. ...Read more

24

24
Is a small gestational sac in relation to the fetus a sign of a chromosomal abnormality. Fetus 9w sac 7w. Doctor and research have me very worried.

Hard to answer...: At such an early stage, imaging and interpretation is hard.
There are associations between size and abnormalities.
But it is impossible to look at a minimally smaller size and conclude anything, especially chromosomal disorders.
It is best not to worry, but follow this serially and monitor progress. Your OB is the best judge of this and should advice you of intervention if at all needed. ...Read more

25

25
What are other reason for recurrent miscarriages besides progesterone, clotting, luteal phase, and chromosome abnormality?

What are other reason for recurrent miscarriages besides progesterone, clotting, luteal phase, and chromosome abnormality?

Uterine cavity: The other really big one you didn't list is uterine cavity abnormalities such as fibroids or congenital abnormalities (septum, etc...). Sadly many many cases of recurrent loss never get a satisfactory diagnosis. ...Read more

26

26
Hi, what natural treatments are effective for mds? No chromosomal abnormality, pancytopenia and transfusion dependent (almost every 15-20 days).

Hi, what natural treatments are effective for mds? No chromosomal abnormality, pancytopenia and transfusion dependent (almost every 15-20 days).

None that I know of: Unfortunately there are no natural treatments for cancer. But mds does have a couple of chemo drugs which are relatively mild to use/tolerate. So try those. ...Read more

29

29
Does slow rising hcg, if pregnancy turns out to be viable, indicate a chromosomal abnormality that could result in child with birth defects?

Does slow rising hcg, if pregnancy turns out to be viable, indicate a chromosomal abnormality that could result in child with birth defects?

Possibly: Healthy and viable pregnancies usually double the value of the HCG hormone every 48 hours. There are many tests that are used now to predict and/or define fetuses with chromosomal abnormalities. Because of your age these tests should be offered and considered. ...Read more

30

30
What is chromosome 13?

What is chromosome 13?

Chromosome 13: Chromosome 13 has genes that can be associated w breast cancer, bladder cancer, Hirschsprung’s dz, Schizophrenia, Wilson’ Dz, some forms of deafness, Retinoblastoma and other conditions. If this is not the info you were interested in then please clarify & re-ask. ...Read more