Karyotype Half Spread |
Syndrome or Phenotype |
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Normal Male |
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Normal Female |
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Trisomy 21 Female "One of the more notable aspects of Down syndrome is the wide variety of features and characteristics of people with trisomy 21: There is a wide range of mental retardation and developmental delay noted among children with Down syndrome. Some babies are born with heart defects and others aren't. Some children have associated illnesses such as epilepsy, hypothyroidism or celiac disease, and others don't. The first possible reason is the difference in the genes that are triplicated. As I mentioned above, genes can come in different alternate forms, called "alleles." The effect of overexpression of genes may depend on which allele is present in the person with trisomy 21. The second reason that might be involved is called "penetrance." If one allele causes a condition to be present in some people but not others, that is called "variable penetrance," and that appears to be what happens with trisomy 21: the alleles don't do the same thing to every person who has it. Both reasons may be why there is such variation in children and adults with Down syndrome." |
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Trisomy 21 Male |
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Trisomy 10 Female Complete trisomy 10 is a rare and lethal condition (Knoblauch et. al., 1999). Trisomy 10 is detected in approximately 1.8% of miscarriages and there is an association between trisomy 10 and advanced maternal age. There are at least five cases of trisomy 10 mosaicism in liveborn children that have been reported in the literature. In all cases the outcome was abnormal. |
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Trisomy 13 Female "Trisomy 13 Syndrome is a genetic disorder with onset before birth. It occurs approximately 1/5000 live births. Infants affected with Trisomy 13 tend to be small at birth. Spells of interrupted breathing (apnea) in early infancy are frequent, and mental retardation is usually severe. Many affected children appear to be deaf. A moderately small head (microcephaly) with sloping forehead, wide joints and openings between parietal bones of the head are present. Gross anatomic defects of the brain, especially failure of the forebrain to divide properly (holoprosencephaly) are common. A hernial protrusion of the cord and its meninges through a defect in the vertebral canal (myelomeningocele) is found in almost 50% of cases. The entire eye is usually small (microphthalmia), and a defect of the iris tissue (coloboma), and faulty development of the retina (retinal dysplasia) occur frequently. The supraorbital ridges are shallow and palapebral fissures are usually slanted. Cleft lip, cleft palate, or both are present in most cases. The ears are abnormally shaped and unusually low-set."
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Trisomy 15 Male "Usually a lethal form of chromosomal aberrations. Most surviving infants have mosaic trisomy 15 and exhibit multiple congenital anomalies involving the craniofacial, limb, cardiovascular, and other structures." |
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Monosomy X Turner Syndrome Individuals with Turner syndrome may have a short neck with a webbed appearance, a low hairline at the back of the neck, and low-set ears. Hands and feet of affected individuals may be swollen or puffy at birth, and often have soft nails that turn upward at the ends when they are older. All these features appear to be due to obstruction of the lymphatic system during fetal development. Another characteristic cosmetic feature is the presence of multiple pigmented nevi, which are colored spots on the skin. |
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Trisomy 16 male Trisomy 16 is one of the most common chromosomal abnormalities, but the affected embryos or fetuses NEVER survive past the first trimester. Many first trimester fetuses are lost in this fashion (many are "silent" abortions). |
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Trisomy 18 Male Trisomy 18 is a relatively common syndrome affecting approximately 1 out of 3,000 live births and affecting girls more than three times as often as boys. Multiple abnormalities are associated with the presence of an extra number 18 chromosome. Many of these abnormalities are not compatible with more than a few months of life. Few infants survive beyond the first year. |
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Deletion 5 Female
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