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a genetic disease common among those who are from Africa.
This genetic disease is the result of a point mutation where there is a change in just one nucleotide in the gene for hemoglobin. The mutation causes the hemoglobin in red blood cells to transform to a sickle shape when de-oxygenated.
a progressive, genetic disease that affects the secretory glands, including the mucus and sweat glands.
causes persistent lung infections and limits the ability to breathe over time.
a rare inherited disorder that causes progressive damage to the nervous system and most commonly affects infants.
It is mainly caused by the
absence of a vital enzyme called hexosaminidase-A (Hex-A)
only occurs w__hen both parents carry a Tay-Sachs gene__ and each parent transmits the defective gene to their child.
located on chromosome 15
an inherited bleeding disorder that causes abnormal or exaggerated bleeding and poor blood clotting.
1/3 of cases are caused by a spontaneous mutation
The most common type of hemophilia is hemophilia A. Common symptoms include excessive bleeding and easy bruising.
most common chromosomal disorder.
have 47 chromosomes in their cells instead of 46, and suffer from mild to moderate disabilities.
three main types of Down syndrome: trisomy 21, mosaicism, and translocation
most common form of Down syndrome, accounting for about 95% of cases.
caused by uneven separation of chromosome 21 during the creation of sex cells
much less common, accounting for about 1% of cases
the uneven separation of chromosome 21 happens shortly after an egg has been fertilized.
Because only some cells have the extra chromosome, mosaic Down syndrome may have less prominent symptoms than trisomy 21.
when a portion of chromosome 21 breaks off during the replication process, and then attaches to another chromosome.
So rather than getting a full extra chromosome, translocation results in cells with the typical 46 chromosome, plus a little extra chromosome 21.
known as XXY condition is a chromosomal condition that affects male physical and cognitive development.
The most common symptom is infertility.
is a chromosomal condition in boys and men that can affect physical and intellectual development.
complex genetic disorder that affects growth, metabolism, appetite, cognitive function, behavioral problems, low levels of sex hormones and a constant feeling of hunger.
It is caused by the loss of genes in a specific region of chromosome 15
a rare chromosomal ailment that impacts girls.
associated with the x chromosome that alters development in women, even though it isn't normally inherited in families.
Infertility, most consistent functions of TS are brief stature and lack of ovarian development
also known as Trisomy 18 (T18) or Trisomy E
The majority of people with the syndrome die during the fetal stage;
named after John H. Edwards, who first described the syndrome in 1960.
a broad spectrum of abnormalities which consist of greater than one-hundred and thirty discrete defects involving the brain, heart, craniofacial structures, kidneys and stomach.
a genetic condition present from birth that affects growth and development.
Infants with this condition often have a high-pitched cat- like cry, small head size, and a characteristic facial appearance.
due to a missing piece (deletion) of a specific part of chromosome 5 known as the 'p' arm.
a condition caused by a loss of genetic material from chromosome 11.
is also known as 11q terminal deletion disorder.
Affected individuals often have a large head size (macrocephaly) and a skull abnormality calledtrigonocephaly, which gives the forehead a pointed appearance.
genetic condition in which a boy is born with an extra X chromosome.
Men with Klinefelter usually don’t know they have it until they run into problems trying to have a child. There’s no cure, but it can be treated.
