Shwachman-Diamond Bodian Syndrome Summary

This syndrome is tested at birth with fluorescent in situ hybridization or FISH. With blood samples, they test the blood for the deletion of chromosome 7. FISH checks if many as of 22-26 genes are deleted. Because there is no cure for this syndrome, you will most likely have physical therapy and early education to help early development symptoms like speech delays and heart problems. This syndrome is not caused by environmental factors, it is completely genetic and NOT the parents fault.

The chromosomal abnormalities include turner's disease, laron dwarfism, noonan syndrome, sinotina wiley syndrome, russell xifushi, mutation / deletion of the short stature homeobox-containing gene, and skeletal dysplasia.

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

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.

"Complete Trisomy 13 Syndrome - Conditions - GTR - NCBI." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. 17 Mar. 2017.

The purpose of this paper is to discuss the effects of the disorder and how genetics and biochemistry work together to create this

AS is caused by a deletion or mutation on the maternal chromosome 15, alteration in UBE3A gene, paternal uniparental disomy, translocation, or mutation in the gene that activates UBE3A gene. PWS is a deletion or mutation on the paternal chromosome 15, uniparental disomy, or translocation. The loss of the SNORD116 gene on chromosome

DiGeorge Syndrome is also known as Velo-Cardio-Facial Syndrome and can affect many parts of the body. This occurs when small pieces of chromosome 22 is missing, resulting in the loss of many important genes. Generally, children with DiGeorge Syndrome have decreased levels of calcium in their bodies, resulting in seizures. These children also typically have underdeveloped, cystic or missing kidneys, compromising the body’s ability to filter waste materials in the blood to make urine. To add, partial immunodeficiency is a common trait of people with DiGeorge Syndrome. This means that these people’s immune systems are not as strong as they should be, making it harder for them to fight infections and disease, resulting in increased illness rates and difficult recoveries from illnesses. As this syndrome affects many parts of the body, heart defects, low platelet counts, difficulty with speech and language, learning difficulties and behavioural disorders are also fairly common in children with DiGeorge disorder. Overall, DiGeorge syndrome has many diverse effects on the human body and is detrimental to the overall wellbeing of those who must live with it.

Diamond-Blackfan Anemia (DBA) is a bone marrow disorder which typically causes low red blood cell counts without affecting other blood components such as white blood cells or platelets. About half of people affected have an assortment of birth defects such as craniofacial abnormalities, limb abnormalities, and cardiac defects. Other common signs of DBA are infants born with only 11 ribs, an abnormality of genitals or urinary system or missing thumbs. DBA is usually identified in infants by low birth weight and a delay in growth. Infants born with DBA are much more likely to get leukemia than those born without. DBA is caused by an inherited

Mutation PKD1 is located on chromosome 16 specifically 16p13.3 and mutation PKD2 is located on chromosome 4 in the vicinity of 4q21-23 (Grantham, 2008). In addition, the PKD1 is very large compared to PKD2, it encodes for a 14.1-kb mRNA transcript that is translated into a protein composed of 4302 amino acids (Igarashi, 2002), whereas PKD2 encodes a 5.3-kb mRNA transcript that is translated into a 968 amino acid protein (Igarashi, 2002). ADPKD follows a dominant inheritance. This means that if either the mother or father has ADPKD, the offspring will have a 50% chance of inheriting ADPKD (Grantham, 2008). If the gene for ADPKD is not passed on, the offspring will neither inherit the disease, nor be able to pass on the disease to future offspring (Grantham, 2008). Ways to develop ARPKD require each parent to be a carrier of at least one defective copy of the disease gene; in this case, there is a 25% chance of having the disease. If only one parent carries the defective gene, the offspring will not inherit the disease (Igarashi, 2002). In Mary’s case, the pedigree resembles an Autosomal Dominant PKD pattern, due to the high frequency of complications

have the identified genetic abnormalities that have been seen in a small number of families.

Swyer Syndrome, also refered as XY gonadal dysgenesis, is a rare disorder in which sexual development is affected. Sexual development is usually determined by an individual’s chromosomes but with Swyer Syndrome that is not the case. This disorder affects 1 in 80,000 people. “Sywer Syndrome was first described in the medical literature by Dr.Swyer in 1955.” (2016). Individuals with this disease are born with 46, XY, Karyotype but have female reproductive parts. Even though these women are born without ovaries and do not produce sex hormones they can still live a normal life.

were believed to be caused by a single gene, have been assessed for potential environmental

These generations are classified as clinical, genetic, and epigenetic2,4,5. Throughout the clinical generation, lynch syndrome was described on the basis of scientific features and family history2,4,5. In the genetic generation, the development of identification for the DNA mismatch repair genes starting with Msh22. In this generation, LS was said to be cause by autosomal dominant mutations1-9 within the mismatch repair genes of Mlh1, Msh2, Msh6, and Pms2. Around 3,000 genetic differences within these four genes have been identified2. The final generation referred to stable modification in the gene expression that changes in a primary DNA

Content: Our group was assigned velocardiofacial syndrome (VCFS). I was excited to receive a syndrome to which I had not been exposed. I was assigned etiology, history, and incidence/prevalence. I learned that VCFS originates from the Latin words “velum” which means “palate,” “cardia” which means “heart,” and “facies” which means having to do with the face. It is the most common syndrome associated with cleft palate! Additionally, VCFS is an autosomal dominant condition. This means that once a person is recognized as having VCFS, they have a 50 percent chance of passing the syndrome on to their offspring. VCFS is characterized by a small deletion of chromosome 22, more specifically in the region of 22q11.2. This deletion results in about 30 genes becoming absent from chromosome 22. Two genes in particular-COMT and TBX1-are associated with VCFS (not all genes that cause VCFS have been identified). However, I am not sure why these genes are involved. I tried to research the reason, but could not find a plausible explanation. I also learned that more often than not, neither parent of a child with VCFS has the deletion of 22q11.2. This means that the condition is NEW in 93 percent of offspring. The good news is that the chance for the couple to produce another child with VCFS is close to zero. The deletion occurs as an accident when either the egg or sperm is being formed, OR early in fetal development. Angelo DiGeorge, MD, is one of the people