Anderson-Fabry Case Studies

The mother, who is a carrier, inherits an X-Linked or sex-linked faulty gene. The result is producing an affected son and or a daughter being a carrier. The second way is an affected male producing children, particularly daughters. All daughters born to fathers with x-linked muscular dystrophy will be carriers; on the contrary their sons will be unaffected. Scientists link this to a genetic mutation in the gene, appearing most often for the first time in a family.

Females are carriers in their X-Chromosome and they have the chance of passing the disease on to their children, 50-50 to a girl and 50-50 to a boy. If the girl does receive the gene she becomes a carrier. If the boy gets the gene then he has the disease. Males do not pass on the gene to their children because they pass on the Y-chromosome and the disease is X specific. Some female carriers have indicators of being a carrier by having symptoms of cardiomyopathy, shortness of breath during exercise, and muscle weakness in the back, arms, and legs. There have been very rare instances where a girl has not received a

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

This happens when an affected parent has one recessive gene and one dominant gene whereas the other has two recessive genes, which allows two children to get two recessive genes meaning they will not be affected. Whereas the other two have one dominant gene meaning they will be affected by the disease.

Fragile X Syndrome is a genetic condition causing intellectual disability, behavioural and learning challenges and various physical characteristics, it occurs in both genders but effects males more. Also is the most common gene for Autism worldwide, every week in Australia one child is born who is fully affected and 20 children are born who are carriers. It is estimated that 5 per cent of people with a diagnosis of an Autism Spectrum disorder also have Fragile X.

Familial melanoma is a genetic or inherited condition. This means that the risk of having a melanoma can be passed from generation to generation in a family. Ordinarily, each cell has two copies of each gene: one inherited from the mother and one inherited from the father. Familial melanoma follows a dominant inheritance pattern, in which case a mutation happens in only one copy of the gene. As every cell has two copies of each gene, it means that a parent can potentially pass along a copy of his or her normal gene or a copy of the mutated gene. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A related person such as a brother or a parent of the person who has a mutation also has a 50% chance of having the same mutation.

A permanent change in a gene that can be passed on to children. The rare, early-onset familial

Fundamentally, mutations of the FMR1 gene occur in which a DNA segment, specifically the CGG triple repeat, which contains instructions for producing a protein called FMRP, is excessively expanded within the gene. Normally the segment is repeated five to forty times in the gene, but in Fragile X Syndrome the strand is repeated over 200 times. The abnormally expanded segment mutes the FMR1 gene, preventing it from producing the protein, FMRP. Deficiency of the protein disrupts functions of the nervous system resulting in the symptoms of Fragile X Syndrome. The condition is inherited through an X-linked dominant pattern.

Familial Dysautonmia is a genetic disorder. A genetic disorder is a disorder that is passed down to you from your parents. For example, when both your parents have brown eyes, so do you! Familial Dysautonmia is similar. It disturbs your automatic nervous system, which is what your body does without you controlling it (Digestion, breathing, tear production, blood pressure, taste, pain, heat, cold, and body temperature).

complex disease since it affects various parts of the body. The gene mutation causes a defect of a

It mostly affects males, who receive the abnormal X gene. Females with one abnormal X chromosome may have some effects of the gene, but the normal X chromosome can offer some protection against the gene. Fabry Disease occurs in all ethnicities and races. Type I occurs in 1 out of 40,000 males and type II is more common affecting 1 in 1,500 to 4,000 males. The prevalence of Fabry Disease in females in unknown due to the disease being X-linked. Unlike other X-linked disorders, Fabry disease causes significant medical problems in many females who have one altered copy of the GLA gene. These women may experience many of the classic features of the disorder, including nervous system abnormalities, kidney problems, chronic pain, and fatigue. They also have an increased risk of developing high blood pressure, heart disease, stroke, and kidney failure. The signs and symptoms of Fabry disease usually begin later in life and are milder in females than in their affected male relatives (ghr,

Adrenoleukodystrophy is a genetic disease that is passed on from mother to son. ALD is an X-linked disorder. That means it affects only males and is transmitted by a female carrier. This disorder is called X-linked since the genetic abnormality involves the X-chromosome. Women have two X-chromosomes while men only have one. In women, the affected X-chromosome, the one with the gene for ALD does not become active because of the presence of a normal copy of the gene on the other X-chromosome. Men have one X-chromosome and one Y-chromosome. In men who have an X- chromosome for X-ALD, there is no other X- chromosome for protection.

Fabry disease is a rare, genetically inherited disorder that more severely affects men. This condition will be discussed in regards to typical symptoms, inheritance pattern, genes affected, and treatments available at this time.

The gene carrying the defect that produces albinism is recessive, which means that both parents must carry this recessive gene in order to produce a child with the condition. When both parents carry the gene (and neither has albinism), there is a one in four chance with each pregnancy that their child will have albinism. The inheritance pattern of ocular albinism is alittle different. This condition is X-linked, meaning that the recessive gene for ocular albinism is located on the X chromosome. X-linked ocular albinism appears just about only in males who inherit the condition from their mothers.

The diagnosis of the disease, its cause or causes, stage, treatment and prognosis will be sought from the pediatrician. He establishes and explains the connection between the disease and the patient's family history. He prescribes appropriate medicines and medications to alleviate the patient's symptoms. The moral principles surrounding the couple's decision concerning the disease are contributed by the ethicist. He warns against the double-effect situation in this disease condition. He emphasizes that birth defects