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Tag Chromosomal disorders
Articles in Chromosomal disorders
Results of pairs of chromosomes 13,18,21 and pairs of sex chromosomes are normal, is the fetus okay?
Hello doctor! I am 12 weeks pregnant, the ultrasound result is 4.3 nuchal translucency. I went to the obstetrics and gynecology hospital for amniocentesis at 17 weeks.
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Can women with congenital heart disease pass it on to their children?
I have a congenital heart defect. So, doctor, let me ask if women with congenital heart disease can pass it on to their children? Thank you doctor.
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Tests to do if you want to get pregnant after a stillbirth
Stillbirth is a haunting phenomenon for many couples. Many couples who want to get pregnant again need to pay attention to the following tests. So what tests should be done after a stillbirth?
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Prenatal screening test without DNA
DNA-free prenatal screening is a non-invasive prenatal screening method with no risk of miscarriage, with a high disease detection rate and low false positive and false negative rates compared to traditional serum screening methods.
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Mechanism of Turner syndrome
Turner syndrome is the most common sex chromosome disorder in women, caused by a disorder of part or all of the X sex chromosome in the genome. The mechanism causing Turner syndrome is of interest to many scientists, clarifying it to effectively prevent this syndrome.
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Large dilatation of posterior fossa in fetus
Fetal posterior fossa major dilatation is a dangerous fetal malformation that needs to be detected and treated early to avoid the risk of hydrocephalus, which greatly affects the health of the fetus and the mother.
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Stillbirth: Signs, causes and treatment
Stillbirth in the 8th week is a condition in which the fetus has formed for 8 weeks but cannot continue to develop in the mother's uterus. This is a condition that no mother wants to happen, however, if not detected and treated promptly, it can cause extremely serious consequences to the mother's health.
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Loss of chromosome 4q
Chromosome 4q deletion is a rare chromosomal disorder that results from the absence of a portion of the long arm of chromosome 4. People with this mutation may have a prominent forehead (like a prominent hump on the forehead), a prominent back of the head, low-set ears, short, broad hands and feet, an unusually small body due to slow growth, congenital heart defects, and possibly intellectual disability. The condition occurs in approximately 1 in 100,000 people, with males and females being equally affected.
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Fraser Syndrome: What you need to know
Fraser syndrome is a genetic disorder that affects 1 in 200,000 newborns. Although it is rare, if the fetus is affected, it will seriously affect the child's development and life expectancy.
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Hereditary syndrome uniparental disomy (UPD)
For most chromosomes, uniparental disomy (UPD) occurs without any serious clinical consequences. However, for chromosomes with genetic imprints, the expression of some genes with genetic imprints from the father and mother is different in the case of UPD, which can lead to the expression of some genetic syndromes.
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Chromosome 10 - Expression, diagnosis and treatment
Monosomy 10p is a rare chromosomal disorder that causes severe intellectual disability, cranial malformations, postnatal developmental delays, and congenital heart defects. What are the symptoms and causes of the disease? Is there a treatment?
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