Wilms Tumor Suppressor Gene Case Study

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.

De novo mutations account for 80-90% of all cases of ACH (1, 4, 7, 8, 11). Recent research has determined that increased paternal age correlates to this specific mutation occuring (4, 7, 11, 19). The maternal age seems to have no effect, meaning that the de novo mutation occurs during spermatogenesis (20). This has also been studied and each affected individual was found to have received the mutated chromosome paternally (21). There has only been one documented case of an

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.

The patient whose chromosomes are organized on the Karyotype Worksheet #1, is a normal female as indicated by her XX sex chromosomes, with a total number of 46 chromosomes and her karyotype doesn’t exhibit any aneuploidy or structural errors.

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.

Moore, S. W. (2009). Developmental genes and cancer in children. Pediatric. Blood Cancer, 52(7), 755-760. doi:10.1002/pbc.21831. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/19165888

Hypospadias is a birth defect in boys, where the opening of the urethra is not in the proper place. With hypospadias, the abnormal formation of the urethra in the penis occurs in the 8th to 14th weeks of gestation. There a differing degrees of hypospadias. It is generally considered minor when the urethra is placed just below the end of the penis. More severe forms range from the urethra opening being placed at mid-shaft to behind the scrotum.

Wilms tumor is a cancer that starts in one, or rarely, both kidneys. It is most often found in children about three years old, and is uncommon in children older than six. It can show up as a swelling or lump in the belly. This type of cancer accounts for about 5% of childhood cancers (American Cancer Society, 2010).

Witkop syndrome is manifested by defects in the nail plates of fingers and toes typically and hypodontia, with normal hair and sweat gland function. There is a pattern of missing teeth.8 Absent maxillary incisors, second molars, and maxillary canines are the most common missing teeth.9 Genetically, mutations in genes MSX-1, PAX9, PsITX2, LTBP3, WNT10A, EDA and EDARADD, AXIN2, and IKBKG have been found associated with oligodontia. Mutations in MSX-1 have been shown to be associated with Witkop’s syndrome.[10)

On the other hand, affected males present normally at birth with some showing signs of hyperpigmentation of the scrotum or a large phallus. It is recommended that surgery on females with ambiguous genitalia has the most positive outcomes between two and six months. Individuals with CAH are also at higher risk of early pubertal development and short stature as adults. Additionally, fertility rates in women with classic 21-alpha-hydroxylase CAH are low, while most males with the disorder are fertile as adults with a minority exhibiting evidence of Leydig cell failure and impaired spermatogenesis. In patients with classic 21-alpha-hydroxylase CAH there is an elevated serum 17-hydroxyprogesterone concentration of higher than 1200 ng/dL. In fact, most of the neonates found with the disorder have serum concentrations of 17-hydroxyprogesterone that exceed 3500

US abnormalities: Its diagnosis is based initially on anhydramnios at 16 weeks’ gestation, nonvisualization of renal structures bilaterally, with a persistently empty urinary bladder.

The XXY syndrome, most commonly known as Klinefelter syndrome (KS), only affects males of all ages. This syndrome occurs when there is a random genetic error after conception and is not curable, however treatment can help.All females have XX chromosome and all males have XY chromosomes. Unlike the normal XY type that all males have, males affected have an additional X chromosome which results into many symptoms such as impaired spermatogenesis, low testosterone, and male hypogonadism. Since Klinefelter syndrome is related to the sex chromosomes of males, it is a sex link trait.

Bilateral Wilms Tumor (BWT) is one the most uncommon manifestation of Wilms Tumor. In this paper, we present a 2-year-old boy who came to hospital because of an enlarging mass in left abdomen since 1.5 years ago. This patient was then diagnosed as BWT with WAGR syndrome and underwent chemotherapy, nephrectomy and orchidectomy. Patient did well in this treatment. In this paper, we present a case report, along with literature review on stage V Wilms Tumor.

Usually hemihypertrophy occurs sporadically but familial cases are reported. Although molecular defects have not been identified in all cases,but there is evidence that IH occurs due to epigenetic defects or paternal uniparental disomy of genes of 11p15 in somatic mosaic form (Shubha R Phadke,