The CHARGE Syndrome

D1S80 locus is placed on the short arm of the chromosome 1. This locus does not code for the arrangement for protein, yet it codes for a series of tandem repeats of 16 bp in human. Distinctive number of this allele has different number of repeats. These quantities of repeats are exceptional to every human. Primer

"It's Tessie," Mr. Summers said, and his voice was quieted. "Demonstrate to us her paper. Bill."

How would you like your life being in danger right after you’re born because you can’t breathe? Treacher Collins syndrome (TCS) causes underdevelopment of facial bones that could threaten an infant’s life by making it difficult to breathe. If the baby lives past this point they will have many facial deformities. Treacher Collins syndrome happens because of a mutation in TCOF1, POLR1C, or the POLR1D genes. TCS causes an underdeveloped facial bone, a small jaw and chin, an opening in the top of the mouth called cleft palate, eyes that slant downward, few eyelashes, a notch in the lower eyelid called a coloboma, eye abnormalities can cause vision loss, and unusually shaped ears lead to hear problems. All of these problems are linked with Treacher

Clinically, the oral findings were “high arched palate in all cases, malocclusion in 6 cases and macrostomia in 4 cases while multiple impactions of the teeth were detected in four patients” (Gataa, 2015, p. 7713). Additionally, only one patient had a cleft palate. From a radiographic perspective, all patients had zygomatic hypoplasia and seven patients had maxillary sinus hypoplasia. Many patients also had micrognathia and short ramus of the mandible. As only two patients had family history of TCS, six patients had TCS due to a new mutation. These results exemplify the notion that TCS patients are all affected differently, and with varying types and degrees of deformities, due to the fact that most cases arise from a new mutation.

. . M, P. (2015, October 27). An Overview of Human Genetic Disorders with Special Reference to African Americans. Retrieved November 16, 2017, from https://www.omicsonline.org/open-access/an-overview-of-human-genetic-disorders-with-special-reference-to-africanamericans-2155-9821-1000e139.php?aid=63273

discoveries is information regarding chromosomal and genetic disorders. Both chromosomal and genetic ailments can have harmful effects on the body. Genetic diseases such as Bloom's Syndrome occur as a result of gene alterations. These gene mutations cause the chromosomes to become unstable, leading to chromosomal breaks, separations and structural repositioning (Freivogel 170). Chromosomal diseases like Charcot-Marie Tooth Disease are also caused by mutations, which are nearly irreversible (Krajewski 232).

Cri-du-Chat (cat’s cry) Syndrome is a rare chromosomal disorder that is caused by the deletion of genetic material on chromosome 5. Due to this, this syndrome has an alternative name, known as 5p-, or 5p minus syndrome. Although this genetic defect is able to be diagnosed, the cause of the deletion on the chromosome is unknown. Almost all cases of the Cri-du-Chat Syndrome are found to have no relation with family members or previous generations. This syndrome is generally not inherited, as the deletion occurs randomly during meiosis (the formation of the gametes). In about 90% of people who have this condition, the deletion is completely random and is not inherited. The remaining 10% of affected people inherit a chromosome with a deleted section from an unaffected parent. This is because the parents’ balanced

Jeune syndrome is a rare inherited disease that has a significant impact on infants and small children. As a result of this disease infants with this condition usually experiences difficulty breathing, kidney abnormalities, and other life threatening issues. Antenatal examination is possible by ultrasound but specific diagnosis is difficult and seemingly impossible. Individuals are diagnosed at birth after careful observation of the limbs and chest area. Patients usually die from respiratory failure because of a very small chest and repeated respiratory infections (Phillips and Van Aalst 2008). There is not a lot that can be done for patients with Jeune syndrome because scientists are still in the process of obtaining knowledge about the initial cause and ways to prevent the mutation (Phillips and Van Aalst 2008). It is understood that because this is autosomal recessive disease, meaning both parents must be carriers.

Ectopia Cordis is mainly associated with the improper development of chest cavity’s structure during the embryonic stage, specifically in the 8th

Aim 1. Resolving the haplotype architecture of GHRd3 to determine its functional and evolutionary impact: In our preliminary studies, we have now resolved the haplotype architecture using focused analysis of thousands of genomes. This will allow us to thoroughly interrogate associations of different GHR haplotypes with metabolic and developmental diseases, expression and methylation and levels of neighboring genes in different tissues. In addition, using population genetics and model-based analysis of the newly resolved haplotypes will enable us to trace back the adaptive pressures acting on the locus, shedding light on the evolutionary forces maintaining this deletion in the population.

Since HGPS’s discovery a reported 1 in 8 million newborns have been known to become affected with the disorder (Parker, 2004). With approximately one hundred known cases since its discovery over a hundred years ago, there are only about thirty maybe forty case now known throughout the world. Due to the rarity of this disorder the Office of Rare Disease of the National Institute of Health has listed it as a “rare disease”. The truth behind these statistics are that many cases are undiagnosed and/ or even misdiagnosed. Today, more and more children are born and diagnosed with progeria throughout the world. Within this paper the complexity of the disease, signs and symptoms, treatments, effects on the family and additional resources that may be available will be discussed.

On follow up at 6 months of age, he had global developmental delay, macrocephaly, frontal bossing, multiple hemangiomas (figure 1,figure 2),cutis marmorata, marked hypotonia with head lag and left sided ptosis. There was no polydactyly or body asymmetry. karyotype and array comparative genomic hybridization (array CGH) were normal. He was reviewed by geneticist and tested positive for ALK1 gene mutation. Echocardiography has shown a mildly dilated aortic root with no other cardiac abnormalities. He was reviewed by ophthalmologists and was noted to have infantile esotropia with left sided Marcus Gunn

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

Aicardi Syndrome is a spontaneous genetic mutation that affects the X chromosome, meaning that it is almost exclusively seen in girls (“Aicardi syndrome - NORD (national organization for rare disorders),” n.d.). The three main characteristics of Aicardi Syndrome are agenesis of the corpus callosum, chorioretinal lacunae (holes in the retina), and seizures (“Aicardi syndrome - NORD (national organization for rare disorders),” n.d.).

Known disease-associated mutations were retrieved from The Human Gene Mutation Database (http://www.hgmd.cf.ac.uk/ac/index.php). The benign polymorphisms were retrieved from the NCBI dbSNP (http://www.ncbi.nlm.nih.gov/snp/) and previous literature. A variety of genes responsible for different lysosomal diseases were analyzed in this study and listed here. IDUA, mucopolysaccharidosis type I (MPS I); IDS, MPS II; GLB1, GM1 gangliosidosis or Morquio disease, type B (MDB); HEXA, Tay-Sachs disease; HEXB, Sandhoff disease; GBA, Gaucher disease; CTNS, cystinosis; GAA, Pompe disease; GUSB, MPS VII; SGSH, MPS IIIA; LIPA, lysosomal acid lipase deficiency.