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Doctor insights on: Chromosome 13 Abnormality

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Dr. Al Hegab Dr. Hegab
Internal Medicine - Allergy & Immunology
36 years in practice
Ain Shams University Faculty of Medicine
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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?

May be: Your obstetrician would be more valuable in discussing those findings and recommend what to do next, take care

Dr. Mary David Dr. David
Obstetrics & Gynecology
2017 years in practice
East Tennessee State University James H. Quillen College of Medicine
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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

Dr. Robert Knuppel Dr. Knuppel
Obstetrics & Gynecology - Maternal Fetal Medicine
41 years in practice
Tufts University School of Medicine
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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%).

Dr. Heidi Fowler Dr. Fowler
Psychiatry
21 years in practice
Uniformed Services University of the Health Sciences F. Edward Hebert School of Medicine
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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.

Dr. Robert Kwok Dr. Kwok
Pediatrics
29 years in practice
Baylor College of Medicine
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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.

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Dr. Pam Yoder Dr. Yoder
Obstetrics & Gynecology - Maternal Fetal Medicine
years in practice
University of Illinois College of Medicine
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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.

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Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
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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.

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Dr. Nikolaos Zacharias Dr. Zacharias
Obstetrics & Gynecology - Maternal Fetal Medicine
22 years in practice
National University of Athens Faculty of Medicine
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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.

Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
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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).

Dr. Nikolaos Zacharias Dr. Zacharias
Obstetrics & Gynecology - Maternal Fetal Medicine
22 years in practice
National University of Athens Faculty of Medicine
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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.

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Dr. Kristi Woods Dr. Woods
Pediatrics
19 years in practice
University of North Carolina School of Medicine
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Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
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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.

Dr. Nikolaos Zacharias Dr. Zacharias
Obstetrics & Gynecology - Maternal Fetal Medicine
22 years in practice
National University of Athens Faculty of Medicine
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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).

Dr. Michael Sparacino Dr. Sparacino
Family Medicine
33 years in practice
A. T. Still University Kirksville College of Osteopathic Medicine
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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.

Dr. Stephen Grant Dr. Grant
Clinical Genetics
years in practice
15

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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

Dr. Ahmad M Hadied Dr. Hadied
Orthopedic Surgery
45 years in practice
University of Damascus Faculty of Medicine
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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.

Dr. Evelyn Hurvitz Dr. Hurvitz
Pediatrics
33 years in practice
University at Buffalo, The State University of New York School of Medicine & Biomedical Sciences
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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.

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Dr. Robert Killian Dr. Killian
General Practice
24 years in practice
University of Utah School of Medicine
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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.

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Dr. Ashu Syal Dr. Syal
Pediatrics - Nephrology & Dialysis
26 years in practice
Gandhi Med Coll, Univ Hlth Sci, Vijayawada, Hyderabad, Ap, India
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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.

Dr. Ritesh Rathore Dr. Rathore
Internal Medicine - Hematology & Oncology
26 years in practice
University of Delhi, College of Medical Sciences
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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.

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