An expecting mother underwent a fetal blood test to determine if her unborn child has a genetic disorder. The results from the test indicated that the fetus has 3 chromosomes 21. No other individual within this family has this genetic anomality. Explain how this happened
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- An expecting mother underwent a fetal blood test to determine if her unborn child has a genetic disorder. The results from the test indicated that the fetus has 3 chromosomes 21. No other individual within this family has this genetic anomality. Explain how this happened.
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- Given the karyotype shown at right, is this a male or a female? Normal or abnormal? What would the phenotype of this individual be?A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. What if the couple wanted prenatal testing so that a normal fetus could be aborted?A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. What is the chance that this couple will have a child with two copies of the dominant mutant gene? What is the chance that the child will have normal height?
- A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. Should the parents be concerned about the heterozygous condition as well as the homozygous mutant condition?My Question is what is the probability their first child will have hemophilia and drawn pedigrees for family members with genotypes. My explantion so far: A man has both X and Y chromosomes as sex chromosomes in his body. Here, though the brother of the man is hemophiliac, a man can’t be a carrier of hemophilia. So, it can be said that his chromosome is “XnY”.Here, the “n” stands for “normal”.Though the paternal uncle is hemophiliac, a man cannot be a carrier of hemophilia, his niece will not be a career. So it can be said that the woman is also not a carrier and has the “XnX” chromosome.So, as the mother is not a carrier, their first child does not have a chance of having hemophilia. This can be determined as it is known that there is no hidden carrier of hemophilia in the family.Mrs. Dee (40 years old) and her husband have an amniocentesis for advanced maternal age. They already have four healthy children. They receive results indicating a 47,XXY karyotype. What is the phenotypic sex of the fetus? How many Barr bodies will be found in each somatic cell?
- 3) Queen Victoria of England, who ruled from 1837-1901, is believed to have been the carrier of hemophilia. Hemophilia is an X-linked disease in which the blood is unable to form clots. Please make a Punnet Square using the scenario below and answer the following questions. Queen Victoria married a man who did not have the hemophilia trait or disease. What is the likelihood that they would have a child with hemophilia? What is the likelihood that they would have a son with hemophilia? What is the likelihood that they would have a daughter with hemophilia?Hemophilia results from a sex-linked gene. The disease is most common in males, but the hemophilia allele is on the X chromosome. Explain this apparent anomaly.In man, muscular dystrophy is a condition in which the muscles waste away during early life and may result in a shorter life expectancy. It is due to a sex-linked, recessive gene. A certain couple has five children – three boys (ages 1yr, 3yrs, and 10yrs old) and two girls (ages 5yrs and 7yrs old). The oldest boy shows the symptoms of this disease. You are their family physician and they come to you for advice. What would you tell them about the chances of their other children developing the disease?
- which genetic disorder matches below descriptions. extra 21st chromosome attaches to chromosome 14. Affected individual exhibit epichanthic folds of eyelids, simian crease in palms, and mental retardation. trisomy 18 Affected individuas have an elongated skull, hair lip, cleft palate, rocker-bottom feet. Life expectancy is about 10 weeks. trisomy 21. Affected indiviudals exhibit epicanthic folds of eyelids, protruding tongue, small, low set ears, and retardation.A 43-year-old (gravida 2, para 2) pregnant woman requests chorionic villus sampling (CVS) and a karyotype of her fetus because of concerns about Down syndrome. Chorionic villus cells reveal the following karyotype: 2 3 7 8 10 11 12 13 14 15 16 17 18 %3D 19 20 21 22 X X Y With this karyotype from CVS, discussion of the results with a genetic counselor would include which one of the following? a. Normal child b. Male with mild to moderate learning problems and infertility c. Female with mild to moderate learning problems and delayed puberty d. Generally normal male, however some degree of short stature and precocious puberty e. Generally normal female, however some degree of short stature and infertilityThe allele for color-blindness is carried on the X chromosome. Making color blindness (a recessive trait) an X - linked trait. A colorblind make and a carrier female for color blindness. (But is not colorblind herself) have a child. Show your work! A) what is the % chance that their son will be color blind? B) what is the % chance that their daughter will be color blind?