Genet. Every person inherits one allele from their biological father and one from their biological mother. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. An infant may undergo surgery to address certain physical symptoms. By Emma Young. While the OMIM database is open to the public, users seeking information about a personal 63: 1153-1159, 1998. Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia. Leoyklang et al. The term "life expectancy" refers to the number of years a person can expect to live. Clinical studies are medical research involving people as participants. It is also important to help adults with WS maintain an active lifestyle, engaged with their peers . Last medically reviewed on December 20, 2022, Intellectual disability is also known as cognitive disability. J. Hum. (2014) identified a de novo heterozygous intragenic duplication of the SATB2 gene (608148.0002). J. Med. A computer tomography (CT) X-ray scan shows the signature "ground glass" look of a severe COVID-19 infection, which is caused by fluid in the lungs. J. Hum. And in most cases, signs and symptoms will present early, within the first 12 months of life. J. Med. [PubMed: 24363063, images, related citations] A number sign (#) is used with this entry because Glass syndrome (GLASS) is caused by heterozygous interstitial deletion on chromosome 2q32-q33. J. Hum. She had a social disposition. Jet received his diagnosis of SATB2-associated syndrome in January 2017, he had just turned 9 years old. Fraser syndrome is an autosomal recessive disorder in which the life expectancy is <1 year. WEATHER ALERT Flood Warning. Glass et al. 65: 387-396, 1999. Most infants with CdLS will have low birth weight and then may experience failure to thrive. J. Hum. Am. Dysmorphic facial features included hypotonic face with hypersalivation, hypertelorism, downslanting palpebral fissures, long eyelashes, upturned nose with broad tip, microretrognathia, long philtrum, low-set and posteriorly rotated ears, and crowded teeth. Treatment for CdLS often helps manage symptoms and support the person. Australian research found that by 2000, 75% of people with Down syndrome in Western Australia had survived to age 50, 50% to age 58.6, and 25% to age 62.9 [2]. glass syndrome life expectancy . (2009) concluded that haploinsufficiency for SATB2 is responsible for some of the clinical features associated with the 2q32-q33 deletion syndrome. A chromosomal deletion map of human malformations. A cross-species analysis of Satb2 expression suggests deep conservation across vertebrate lineages. FitzPatrick et al. [Full Text], Leoyklang, P., Suphapeetiporn, K., Siriwan, P., Desudchit, T., Chaowanapanja, P., Gahl, W. A., Shotelersuk, V. 19: 900-908, 2017. Docker et al. Osteogenesis imperfecta (OI) is a genetic disorder that prevents the body from building strong bones. Life tables are used to measure mortality, survivorship, and the life expectancy of a population at varying ages. Frequency: As of 2020, ~300 people have been diagnosed with this syndrome. The vast majority of adults with Williams syndrome are productive members of their communities, living and working in a variety of settings. Many collaborate with medical experts and researchers.Services of patient organizations differ, but may include: Clinical studies are part of clinical research and at the heart of all medical advances, including rare diseases. People with the early-onset (severe) form usually live for 10 - 20 years. glass syndrome life expectancy. Less common neurological problems include feeding difficulties and weak muscle tone (hypotonia) in infancy. Check this site often for new trials that become available. [Full Text], Ghassibe-Sabbagh, M., Desmyter, L., Langenberg, T., Claes, F., Boute, O., Bayet, B., Pellerin, P., Hermans, K., Backx, L., Mansilla, M. A., Imoehl, S., Nowak, S., and 17 others. [Full Text], Kaiser, A.-S., Maas, B., Wolff, A., Sutter, C., Janssen, J. W. G., Hinderhofer, K., Moog, U. Am. For each mile travelled life expectancy rises about a year and a half. Molecular studies identified a de novo heterozygous t(2;3)(q33.1;q26.33) translocation with the breakpoint on 2q33.1 within the PLCL1 (600597)-SATB2 gene desert. (2015) identified a de novo heterozygous intragenic duplication of the SATB2 gene (608148.0003), predicted to result in haploinsufficiency. Further delineation of the SATB2 phenotype. Mutat. They may also benefit from physical therapy, occupational therapy, and speech therapy. This gene is important for the development of the face, brain and bone. The Edwards syndrome or trisomy 18 is characterized by a large number of clinical pictures, which are: There is a delay in development, both in the prenatal and postnatal stages. information that you need at your fingertips. Note: Electronic Article. Osteogenesis imperfecta (OI) is an inherited (genetic) bone disorder that is present at birth. She had prenatal and postnatal growth retardation, microcephaly, facial dysmorphism, cleft palate, camptodactyly, bilateral talipes equinovarus, severe intellectual disability, and ectodermal anomalies. Glass IA, Swindlehurst CA, Aitken DA, McCrea W, Boyd E. Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. Bainbridge-Ropers Syndrome has not been studied well enough to know what the life expectancy is for someone with Bainbridge-Ropers Syndrome. Rifai et al. Downs SM, van Dyck PC, Rinaldo P, et al. Europ. CdLS is a genetic condition. (2011). Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development. Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. Haploinsufficiency of other genes such as COL3A1 (120180)/COL5A2 (120190), GTF3C3 (604888), CASP8 (601763), CASP10 (601762), and SATB2 may also influence the phenotype. [PubMed: 17377962, related citations] Rosenfeld et al. Am. 22: 1034-1039, 2014. Some patients with mild symptoms and signs will have a normal life expectancy, while others with severe symptoms and signs may have a shortened lifespan. Other services that may be beneficial for infants with CdLS include: A parent or caregiver for an infant with CdLS may wish to consult a dietitian to address certain feeding difficulties. [Full Text], Rainger, J. K., Bhatia, S., Bengani, H., Gautier, P., Rainger, J., Pearson, M., Ansari, M., Crow, J., Mehendale, F., Palinkasova, B., Dixon, M. J., Thompson, P. J., Matarin, M., Sisodiya, S. M., Kleinjan, D. A., FitzPatrick, D. R. The SATB2 gene is located in chromosome 2q32 (the region designated as q32 on the long (""q"") arm of chromosome 2), and many of the features are similar to the ""2q33.1 microdeletion syndrome"". There are many different types of genetic disorder. Rainger et al. Hum. The most common measure of life expectancy is life expectancy at birth. [Full Text: https://doi.org/10.1038/ejhg.2014.163], Leoyklang, P., Suphapeetiporn, K., Siriwan, P., Desudchit, T., Chaowanapanja, P., Gahl, W. A., Shotelersuk, V. [PubMed: 12915443, related citations] What is the long term outlook for a child with Angelman syndrome? 23: 704-707, 2015. In 2006, someone asked me what my biggest fear was. They're also at risk for cancer of the uterus, ovaries, or stomach. This issue tends to occur in a person's 30s or 40s. A locus for isolated cleft palate, located on human chromosome 2q32. Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Weifang Kong and Prachi P. Agarwal. Down Syndrome Facts in Spanish : Sindrome De Down Factores What is Down Syndrome? [PubMed: 10417281] (612313) (Updated 08-Dec-2022). Affiliated tissues include bone, brain and skin, and related phenotypes are global developmental delay and abnormality of the dentition, GARD: Many parents want to know if life expectancy is . (2014) reevaluated 1 of the patients reported by Brewer et al. [Full Text: https://doi.org/10.1038/ejhg.2013.280], FitzPatrick, D. R., Carr, I. M., McLaren, L., Leek, J. P., Wightman, P., Williamson, K., Gautier, P., McGill, N., Hayward, C., Firth, H., Markham, A. F., Fantes, J. Find resources for patients and caregivers that address the challenges of living with a rare disease, Learn more about the different types of clinical studies, ResearchMatch helps connect people interested in research studies, UMLSVocabulary Standards and Mappings Downloads, Access aggregated data from Orphanet at Orphadata, National Center for Biotechnology Information's, Newborn Screening Coding and Terminology Guide, Improving newborn screening laboratory test ordering and result reporting using health information exchange, Health Literacy Online: A Guide for Simplifying the User Experience, U.S. Department of Health & Human Services, National Center for Advancing Translation Sciences, Ways to connect to others and share personal stories, Up-to-date treatment and research information, Lists of specialistsor specialty centers. [Full Text], FitzPatrick, D. R., Carr, I. M., McLaren, L., Leek, J. P., Wightman, P., Williamson, K., Gautier, P., McGill, N., Hayward, C., Firth, H., Markham, A. F., Fantes, J. Patients with SATB2-associated syndrome exhibiting multiple odontomas. Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes. Full Story. . scratch on rental car budget; piezoelectric materials ppt; cold pattern warzone blueprint; trabajo de limpieza en queens; i have a signed title but no bill of sale; glass syndrome life expectancy. In 2007, on average, persons with Down syndrome lived to be about 47 years old. Lissencephaly (/ l s. n s f. l. i /, meaning 'smooth brain') is a set of rare brain disorders whereby the whole or parts of the surface of the brain appear smooth. Both genes and chromosomes are types of genetic material that consist of DNA, but they have some key differences. PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes. (2005) reported 4 unrelated patients with interstitial deletions of chromosome 2q32-q33. Hayley Okines, a teenager from Bexhill, England, with a body of a 105-year-old, who suffers a rare genetic disease called progeria characterized by premature aging symptoms and was told by doctors that she would not live longer than 13 years, celebrated her 14 th birthday last December. Scientific Director, OMIM. Genet. Genet. Mutant mRNA was present in the patient's cells, suggesting that it does not undergo nonsense-mediated mRNA decay. Additional features may include seizures, joint laxity, arachnodactyly, and happy demeanor (summary by Glass et al., 1989; Urquhart et al., 2009; Rainger et al., 2014). )del, NM_001172509.2(SATB2):c.1610del (p.Asn537fs), NM_001172509.2(SATB2):c.1103_1106del (p.Val368fs), NM_001172509.2(SATB2):c.553_554insT (p.Glu185fs), NM_001172509.2(SATB2):c.225T>A (p.Tyr75Ter), GRCh37/hg19 2q33.1(chr2:200213361-200233633), NM_001172509.2(SATB2):c.1826del (p.Asp609fs), NM_001172509.2(SATB2):c.1504del (p.Gln502fs), NM_001172509.2(SATB2):c.318T>G (p.Tyr106Ter), NM_001172509.2(SATB2):c.721_722del (p.Asn241fs), GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289), GRCh37/hg19 2q32.3-33.1(chr2:197359024-201383462)x1, NM_001172509.2(SATB2):c.1135C>T (p.Gln379Ter), NM_001172509.2(SATB2):c.1153del (p.Val385fs), NM_001172509.2(SATB2):c.150del (p.Val51fs), NM_001172509.2(SATB2):c.1705dup (p.Gln569fs), NM_001172509.2(SATB2):c.554del (p.Glu185fs), NC_000002.11:g.(?_200136914)_(200320780_? Other supportive findings may include skeletal anomalies with low bone density and abnormal brain imaging. Durham baby has 1 out of 100 recorded cases of a rare syndrome and a life expectancy less than four years. Whole genome sequencing of 45 Japanese patients with intellectual disability. J. Med. 1. is specialized diverge tubeless ready? [PubMed: 2918541] Of the 19, all had neurodevelopmental impairment, 16 had absent/near absent speech, 17 had normal somatic growth, 9 had cleft palate, 12 had drooling, and 8 had dental anomalies. MedlinePlus Genetics: : 1512 Symptoms found in various types of OI include whites . [PubMed: 17377962] [PubMed: 25251319] Hunter syndrome life expectancy. What is the life expectancy for people with Down syndrome? Hum. It is caused by defective neuronal migration during the 12th to 24th weeks of gestation resulting in a lack of development of brain folds and grooves (). 28: 732-738, 2007. Children with progeria generally appear normal at birth. It is also known as brittle bone disease. "It kind of . 132: 1383-1393, 2013. The highest risk of death is in young adults who have hypertrophic cardiomyopathy that was diagnosed when they were under 2 . The patient was born of unrelated parents and conceived via intracytoplasmic sperm injection. [PubMed: 23925499] Facial features included prominent nasal bridge with underhanging columella, small mouth with distinctive upper lip, and long, slender fingers. Meu negcio no Whatsapp Business!! Unfortunately, it is not free to produce. [PubMed: 24363063] [Full Text], Leoyklang, P., Suphapeetiporn, K., Srichomthong, C., Tongkobpetch, S., Fietze, S., Dorward, H., Cullinane, A. R., Gahl, W. A., Huizing, M., Shotelersuk, V. He also had seizures and a striking scalloped skin pigmentation that did not follow Blaschko lines. The patient also had profound mental retardation, seizures, and a jovial personality. We report the clinical, laboratory and post-mortem . NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, [Full Text], Rifai, L., Port-Lis, M., Tabet, A.-C., Bailleul-Forestier, I., Benzacken, B., Drunat, S., Kuzbari, S., Passemard, S., Verloes, A., Aboura, A. [Full Text: https://doi.org/10.1371/journal.pone.0006568], Urquhart, J., Black, G. C. M., Clayton-Smith, J. [Full Text: https://doi.org/10.1038/gim.2016.211], Brewer, C., Holloway, S., Zawalnyski, P., Schinzel, A., FitzPatrick, D. Sites within these 3 CREs were shown to bind SOX9 (608160) in cells derived from a mouse embryonic pharyngeal arch. Many affected individuals have behavioral problems, including hyperactivity and aggression. Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. SATB2 interacts with chromatin-remodeling molecules in differentiating cortical neurons. This can be because of vascular symptoms, or increased risk of lung problems. [PubMed: 21343628, related citations] Summaries for Glass Syndrome. Hum. [PubMed: 9758599] In men, on the other hand, it is usually a condition that is not compatible with life, which is . However, because CdLS may follow a mostly X-linked dominant inheritance pattern, females often show similar findings to males. 58 SATB2-associated syndrome is a condition that affects several body systems. SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression. [Full Text], Rosenfeld, J. All patients had severe developmental delay, mental retardation, and tooth anomalies, but other features varied. A chromosomal deletion map of human malformations. [PubMed: 2918541, related citations] [Full Text], Docker, D., Schubach, M., Menzel, M., Munz, M., Spaich, C., Biskup, S., Bartholdi, D. (2017) reported 19 different SATB2 mutations, of which 11 were loss-of-function and 8 missense (e.g., 608148.0004-608148.0006). Based upon our increased lifespan, COVID-19 reduced our life expectancy by about 1.6%, Spanish flu by 11.8%. The clinical features in individuals with missense variants were indistinguishable from those with loss-of-function variants. SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations. SATB2 nuclear mobility was mutation-dependent. The findings suggested that the translocation breakpoints identified in patients with craniofacial defects disrupt the long-range cis regulation of SATB2 by SOX9, resulting in functional haploinsufficiency of SATB2. The condition also has several possible physical symptoms, including: distinct head . A person has two different versions, or alleles, of each gene. Lynch syndrome is a condition that makes people more likely to get certain cancers. Urquhart et al. Medical professionals may observe a growth restriction in a fetus during an ultrasound scan. [PubMed: 19576302, related citations] (2014) reported a 20-year-old man with delayed psychomotor development since infancy and moderate to severe intellectual disability with only a few spoken words. The main features are cryptophthalmos, ear, nose and skeletal malformations, syndactyly, laryngeal stenosis and malformation of the uro-genital system, lungs, liver and central nervous system (CNS). Will my child ever talk or communicate with me? There are different types of OI, and the problems it causes vary. (2017) reported 20 previously unreported individuals with 19 different SATB2 mutations (11 loss-of-function and 8 missense variants). GDD often involves a significant delay in two or more developmental areas in children aged 5 years or younger. (2014) reported a 33-year-old man with severe intellectual disability, aggressive behavior, and dysmorphic features, including small mouth, cleft palate, micrognathia, prominent nasal bridge, long nose, long columella, abnormal dentition, and arachnodactyly. 63: 1153-1159, 1998. Large-scale discovery of novel genetic causes of developmental disorders. Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Unfortunately, there are no guarantees because Marfan syndrome and related disorders are so unpredictable. Other possible physical symptoms of the condition include hirsutism, skeletal problems, GI issues, and cardiac anomalies. (2014) found that the 2q33 breakpoint in this family was about 896-kb centromeric to the SATB2 gene and likely interrupted SATB2 cis-regulatory elements. Common clinical features included pre- and postnatal growth retardation, severe mental retardation, thin and sparse hair, persistent feeding difficulties, inguinal hernia, and broad-based gait. Infants with SCID appear healthy at birth but are highly susceptible to severe infections. CdLS may cause a range of symptoms, including intellectual disability and characteristic head and facial features. Note, GARD cannot enroll individuals in clinical studies. Genet. Some exhibit autistic behaviors, such as repetitive movements. J. Hum. A., Bonthron, D. T. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Females typically have two X chromosomes, and males usually have only one. Genet. (2014) suggested that the phenotypes in the patients reported by Brewer et al. Hirsutism is when hair grows in unusual areas of a woman's face and body, such as the face or back, or at an unusual density and thickness. These findings were consistent with a diagnosis of ectodermal dysplasia. Docker et al. california fishing regulations 2022 AJ Trenton Painting Service vidal sassoon london academy. [Full Text: https://doi.org/10.1016/j.ajhg.2011.01.003], Glass, I. Finally, the most serious chronic conditions may . and by advanced students in science and medicine. Additional features included tall forehead, bushy eyebrows, prominent nose, cleft palate, narrow maxilla with malocclusion, oligodontia, and abnormally shaped teeth. Because of medical advances (especially heart surgeries), life expectancy for people with Marfan syndrome started to rise in the late 1970s. [Full Text], Glass, I. Honestly, it could go either way. Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype. 65: 387-396, 1999. [PubMed: 21295280] A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe developmental delay/intellectual disability with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness), and craniofacial anomalies such as long face, high and prominent forehead, bulbous nose with low-hanging columella, thin vermillion of the upper lip, palatal (cleft palate, high-arched palate, and bifid uvula) and dental (abnormal upper incisors) abnormalities, and micrognathia. The main symptoms can be remembered using the acronym S.A.T.B.2 (S, Severe speech anomalies; A, Abnormalities of the palate; T, Teeth anomalies; B, Behavioral issues with or without Bone or Brain anomalies, and age of onset before 2 years of age). Best food forward: Are algae the future of sustainable nutrition? Currently GARD aims to provide the following information for this disease: This section is currently in development. Development of motor skills, such as rolling over, sitting, and walking, can also be delayed. review the literature and organize it to facilitate your work. [Full Text], Brewer, C. M., Leek, J. P., Green, A. J., Holloway, S., Bonthron, D. T., Markham, A. F., FitzPatrick, D. R. Genet. J. Med. Heart failure: Could a low sodium diet sometimes do more harm than good? (1989) reported a 16-year-old boy with severe mental retardation, microcephaly, and craniofacial dysmorphism associated with an interstitial deletion of chromosome 2q32.2-q33.1. 23: 2569-2579, 2014. [Full Text: https://doi.org/10.1086/302498], Docker, D., Schubach, M., Menzel, M., Munz, M., Spaich, C., Biskup, S., Bartholdi, D. (2015) reported a 10-year-old German girl who presented at age 33 months with delayed psychomotor development, no speech development, sleeping problems, and feeding difficulties. The research also shows people . Rosenfeld et al. 12: 2491-2501, 2003. Angelman syndrome also is associated with weak muscles from birth ( hypotonia ), which can make feeding difficult. They build public awareness of the disease and are a driving force behind research to improve patients' lives. The life expectancy of people with Angelman syndrome is normal. #612313 The answer came quickly because it was a fear that I had had the majority of my life - "Having a child that will have a life long dependency.". J. Med. Newborns with CdLS often have a birth weight of less than 2.2 kilograms (4.8 pounds). Dysmorphic features could be delineated into 2 groups: one with upturned nose and myopathic facies, and another with a prominent nose and downslanting palpebral fissures. If a person must receive only one altered gene from a parent for a condition to occur, a medical professional will describe the condition as autosomal dominant. By oligonucleotide-based array CGH analysis in 7 patients with chromosome 2q33.1 deletion syndrome, Balasubramanian et al. About half of affected individuals have abnormalities in the structure of the brain.The most common craniofacial anomalies in people with SATB2-associated syndrome are a high arch or an opening in the roof of the mouth (high-arched or cleft palate), a small lower jaw (micrognathia), and dental abnormalities, which can include abnormally sized or shaped teeth, extra (supernumerary) teeth, or missing teeth (oligodontia). Scientists associate several different genes with CdLS. [PubMed: 16179223] The aorta - the large artery that takes blood away from the heart - can enlarge even in older adults with Marfan syndrome. Leoyklang P, Suphapeetiporn K, Siriwan P, Desudchit T, Chaowanapanja P, Gahl WA, Shotelersuk V. Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. One female X chromosome is typically inactive, which means the genes on that chromosome do not function. [Full Text: https://doi.org/10.1007/s00439-013-1345-9], Lieden, A., Kvarnung, M., Nilssson, D., Sahlin, E., Lundberg, E. S. (2014) identified 3 different functional enhancing cis-regulatory elements (CREs) in the gene desert between the PLCL1 and SATB2 genes, 3-prime to SATB2. Use ClincalTrials.gov button below to search for studies by disease, terms, or country. Reference: Data from the Newborn Screening Codingand Terminology Guide is available here. Parental samples from the mother were available for only 2 patients, and neither mother carried the deletion; parental samples were not available for the third patient. Molec. People who have it have about a 40% to 80% chance of getting colorectal cancer by age 70. The symptoms and their severity can vary from person to person. Am. This gene is important for the development of the face, brain and bone. Symptoms and signs of Noonan syndrome range from mild to severe. Some children will survive but show no significant development, and children may remain at a level that is . A., Shaffer, L. G. Genet. Dentofacial anomalies included delayed primary dentition and micrognathia in 1 patient; cleft palate, crowded teeth, and small mandible in the second; and fused mandibular central incisors without cleft palate in the third. A., Parker, M. J. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 22 March 2002. A., Swindlehurst, C. A., Aitken, D. A., McCrea, W., Boyd, E. 52: 454-457, 2009. Some of these include: (2011) reported 7 unrelated patients with different interstitial deletions of chromosome 2q33.1. Two patients had seizures, and 3 had spasticity and contractures. 2022-06-30; glendale water and power pay bill J. Med. Genet. After age 8, monitoring for signs of Wilms tumor may be done by periodic ultrasound and by watching for symptoms such as swelling of the abdomen or blood in the urine. . 4 It can lead to symptoms like blurred and double vision. Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. Genet. (2009) reported 3 unrelated patients with small heterozygous deletions of chromosome 2q33.1, ranging from 173.1 to 185.2 kb, that affected only the SATB2 gene. Facial features included large beaked nose, ptosis, and cleft palate. It assumes that the age-specific death rates for the year in question will apply throughout the lifetime of individuals born in that year. It is characterized by intellectual disability, severe speech problems, dental abnormalities, abnormalities of the head and face (craniofacial anomalies), and behavioral problems.
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