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22q11 duplication

22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2. The features of this condition vary widely, even among members of the same family

22q11.2 Duplication Syndrome is not detectable by routine genetic testing (called karyotyping.) Most individuals with 22q11.2 duplication are identified either by something called array genomic hybridization (array GH) testing or by multiplex ligation-dependent probe amplification (MLPA) testing for 22q11.2 deletion syndrome An Overview of 22q11.2 Duplication The 22q11.2 Duplication is about half as common as the 22q11.2 deletion (so found in about 1/4000 newborns). But because there are likely so many individuals who remain undiagnosed, it is hard for doctors to estimate the prevalence of this syndrome The US National Library of Medicine Genetics Home Reference says that 22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2 The majority of 22q11 duplications are inherited often from a parent with a normal or near-normal phenotype. This is in sharp distinction to 22q11 deletion syndrome where about 90% of cases are caused by mutations that occur de novo

A 22q11.2 duplication is a genetic variation in which there is an extra copy of a small piece of chromosome 22. The duplication is found near the middle of the chromosome at a place called q11.2. Because the extra bit is very tiny indeed, you will sometimes see it called a microduplication 22q11.2 deletion is almost as common as Trisomy 21, also known as Down syndrome, which is a more widely recognized chromosomal disorder. Children with 22q11.2 deletion and duplication syndromes often have other health problems, including

Chromosome 22q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 22. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved A CNC of 22q11.21 gain (duplication) was detected (Table 1). The area of duplication is 737 kb, and there are 21 genes in the area (Fig. 1). The genomic coordinates are 20,728,956-21,465,662 (hg build 19). Using these determined coordinates, it appears that this duplication is flanked by LCRB and LCRD, without including either

The 22q11.2 duplication phenotype appears to be generally mild and highly variable; findings range from apparently normal to intellectual disability/learning disability, delayed psychomotor development, growth retardation, and/or hypotonia Case Report: We present a case of a male infant who was prenatally diagnosed with 22q11.2 microduplication and was found to have congenital hypothyroidism due to thyroid hemiagenesis after birth. Moreover, the baby had bilateral hearing impairment, bilateral cryptorchidism, and a rotated penis 22q11.2 microduplication syndrome can be associated with juvenile glaucoma. Trabeculectomy may be complicated by persistent hypotony. Deep sclerectomy appears to be a better surgical option, although the presence of a thin sclera may result in conversion to trabeculectomy. 22q11.2 microduplication syndrome can be associated with juvenile glaucoma (Definition/Background Information) Chromosome 22q Duplication Syndrome is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 22 The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involve

Non-allelic homologous recombination events on chromosome 22q11.2 during meiosis can result in either the deletion (22q11.2DS) or duplication (22q11.2DupS) syndrome. Although the spectrum and frequency of congenital heart disease (CHD) are known for 22q11.2DS, there is less known for 22q11.2DupS. We There is not a specific cure or treatment for 22q11.2 duplication syndrome; however, after someone is diagnosed with 22q11.2 duplication syndrome, the first steps are treating individuals symptoms such as surgery for heart defects, physicial therapy to improve weak or floppy muscle tone (hypotonia), speech therapy for individuals with speech delays, special feeding tools for infants with a.

22q11.2 duplication - Genetics Home Reference - NI

  1. As with the 22q11 Deletion Syndrome if a child is discovered to have the duplication both parents and any other children will be tested. At present most children are found to have inherited the duplication from a parent who often shows no signs whatsoever while those parents passing on the deletion are usually found to have at least mild signs that were not associated with the syndrome when.
  2. Marked inter-and intrafamilial variability is observed among patients with 22q11.2 microduplications. In general, there seems to be variable expressivity between family members carrying the common 3 Mb and 1.5 Mb microduplications, but most of the individuals carrying these duplications have some degree of developmental delay
  3. One patient with distal duplication had tetralogy of Fallot and the other had frontomedial polymicrogyria and callosal agenesis. Jackson et al. (2007) described 5 patients with germline deletions of chromosome 22q11.2 encompassing the INI1 gene (SMARCB1; 601607) and leading to the development of rhabdoid tumors
  4. Persons with the 22q11.2 duplication present with similar, albeit milder, phenotypic symptomology as those with the 22q11.2 deletion. 19,20,23,25 The most frequently reported clinical manifestations include intellectual/learning disability, delayed psychomotor development, ADHD, autism spectrum disorder, growth retardation, muscular hypotonia, and congenital malformations. 20,22,25-30 However.
  5. A support group for families and individuals seeking support for chromosome 22 disorders. Including 22q11.2 deletion syndrome, Emanuel Syndrome and the 11/22 translocation, 22q11 duplication, ring 22, 22q13 deletion - Phelan-McDermid Syndrome, Cat Eye Syndrome, Schmid-Fraccaro Syndrome, variations of trisomy 22 and unique chormosome 22 conditions
  6. Duplikeringen på 22q11 har potentiale til at påvirke mange systemer i kroppen og kan forårsage en lang række sundhedsproblemer. Ikke to mennesker er nogensinde nøjagtig ens, selv når de har samme syndrom, og ikke hver person med overlapning påvirkes på samme måde - selv i de samme familier, hvor der kan være flere med samme 22q11 duplication
  7. Having 22q11 duplication syndrome or extra genetic material on the long arm of chromosome 22 can cause changes in the formation of the heart leading to heart defects, to weak or floppy muscle tone (hypotonia), problems developing the roof of the mouth (the soft palate) creating a problem called velopharyngeal insufficiency (opening in the soft palate of the mouth that can affect speech.

22q11.2 duplication syndrome (Dup22q11.2) has reduced penetrance and variable expressivity. Those affected may have intellectual disabilities, dysmorphic facial features, and ocular alterations such as ptosis, hypertelorism, nystagmus, and chorioretinal coloboma. The prevalence of this syndrome is unknown, there are only approximately 100 cases reported DD22F : Establishing a diagnosis of 22q deletion/duplication syndromes Detecting cryptic rearrangements involving 22q11.2 or 22q11.3 that are not demonstrated by conventional chromosome studie

22q11.2 duplication: MedlinePlus Genetic

  1. The 22q11.2 duplication syndrome (MIM #608363) is a disorder with varied features. Its phenotype overlaps 22q11.2 deletion syndrome, commonly known as DiGeorge/velocardiofacial syndrome (DG/VCFS; MIM #188400, #192430), but it is a separate and distinct syn-drome. Manifestations of 22q11.2 duplication syndrome range from normal to mild-moderate.
  2. How to Cite this Article: Shimojima K, Imai K, Yamamoto T. 2010. A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy. Am J Med Genet Part A 152A:2820-2826
  3. Genetics. Duplications of 22q11 vary in size and thereby in gene content. They include the typical common 3-Mb microduplication, 1.5-Mb nested duplication, consistent with non-allelic homologous recombination (NAHR) using distinct low-copy repeats. These microduplications likely represent the predicted reciprocal rearrangements to the microdeletions characterized in the 22q11.2 region
  4. istration, it is important to confirm 22q deletion/duplication syndrome diagnoses by other established methods, such as clinical history or physical evaluation
  5. The second case had a duplication of 605 kb in the 15q13.3 region encompassing CHRNA7 and a deletion of 209 kb involving the RBFOX1 gene in the 16p13.2 region, in addition to 22q11.2 duplication
  6. ed the developmental impact of overexpression of an approximately 190-kb segment of human chromosome 22q11.2, which includes the genes TXNRD2.

22q Duplication - 22qties

DECIPHER helps the clinical community share and compare human genome variants and phenotypes in a database of tens of thousands of patients worldwid The 22q11.2 Society Who we are: We are a group of researchers and physicians who specialize in conditions related to the deletion and/or duplication in the chromosomal region 22q11.2 and their underlying biology. Mission: To promote both basic science and clinical interdisciplinary research into the biology of the 22q11.2 region, and the diagnosis, prognosis and management of related disorders

22q11 2 Duplication Syndrome See Hear Say Learn. Loading Digeorge syndrome (22q11.2 deletion syndrome) - causes, symptoms, & pathology - Duration: 5:05. Osmosis 127,486 views 22q11.2 Duplication Syndrome is not detectable by routine genetic testing (called karyotyping.) Most individuals with 22q11.2 duplication are identified either by something called array genomic hybridization (array GH) testing or by multiplex ligation-dependent probe amplification (MLPA) testing for 22q11.2 deletion syndrome.Both of these tests are performed with blood work but can be. Le Guennec K, Quenez O, Nicolas G, et al. 17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression. Mol Psychiatry 2017; 22:1119. Ensenauer RE, Adeyinka A, Flynn HC, et al. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 2003; 73. A New Diagnosis 22q11.2 Deletion & 22q11.2 Duplication. Growth Charts for 22q11.2 DS. Medical Needs International Foundation. Support Natalie Chop Her Locks. VCFS 22q11 Foundation INC 9875404 Trading As 22q Foundation Australia & New Zealand ABN: 22 379 450 116 Microduplication 22q11.2 syndrome: A syndrome due to duplication of a tiny part of chromosome band 22q11.2. Features of the syndrome include the appearance of widely spaced eyes and superior placement of eyebrows; downslanting palpebral fissures (eye slits); mild micrognathia (small chin) and retrognathia (recessed chin); and a long, narrow face

22q11.2 Duplication - 22q.or

  1. DiGeorge syndrome is caused by a problem called 22q11 deletion. This is where a small piece of genetic material is missing from a person's DNA. In about 9 in 10 cases (90%), the bit of DNA was missing from the egg or sperm that led to the pregnancy. This can happen by chance when sperm and eggs are made
  2. Long-term follow-up to evaluate retention of vaccine titers 110 was not performed. 111 112 The mechanism of immunodeficiency associated with 22q11.2 duplication syndrome is unknown 113 but could involve TBX1, a T-box transcription factor located in the LCR22A-LCR22B region 114 that is expressed in pharyngeal arches during embryogenesis with disruptions resulting in 115 thymic, parathyroid, and.
  3. 22q11.2 duplication as the child, each future pregnancy has a 50 per cent chance of having the same 22q11.2 duplication and a 50 per cent chance of having normal chromosomes. It's also possible, although rare, that a future pregnancy could have more than one copy of the 22q11.2 duplication. There is a case in the medica
  4. emia, hyperlipidemia and edema, is most caused by monogenic defects in structural proteins of the glomerular filtration barrier in the kidneys. 22q11.2 duplication syndrome was a chromosomal disease with variable clinical featuresranging from normal to mental retardation and with congenital defects
  5. Twenty-one patients, including our two cases, with variable clinical phenotype, ranging from mild learning disability to severe congenital malformations or overlapping features with DiGeorge/velocardiofacial syndromes (DG/VCFS), have been shown to have a chromosome duplication 22q11 of the region that is deleted in patients with DG/VCFS. The reported cases have been identified primarily by.
  6. SFARI Gene Update. We are pleased to announce some changes to the ongoing curation of the data in SFARI Gene. In the context of a continued effort to develop the human gene module and its manually curated list of autism risk genes, we are modifying other aspects of the site to focus on the information that is of greatest interest to the research community
  7. Widespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated.

22q11.2 Duplication - Cape Not Require

  1. Using these data, models for the mechanisms involved in the rearrangements of 22q11 are proposed. Furthermore, duplication events in nonhuman primate genomes (chimpanzee, gorilla, rhesus and owl.
  2. Non-allelic homologous recombination events on chromosome 22q11.2 during meiosis can result in either the deletion (22q11.2DS) or duplication (22q11.2DupS) syndrome. Although the spectrum and frequency of congenital heart disease (CHD) are known for 22q11.2DS, there is less known.
  3. 22q11.2 Duplication is caused by an extra piece of genetic material on the 22nd chromosome. The duplication can cause a wide range of health issues. However, many patients have no noticeable symptoms. Some symptoms that can occur include: Hypotonia (low muscle tone) Developmental delays. Intellectual disability. Psychiatric illnes

Duplication of the 22q11.2 region associated with congenital cardiac disease - Volume 15 Issue 2 - Rebecca Sparkes, Judy Chernos, Franciscus Dicke. Skip to main content Accessibility help We use cookies to distinguish you from other users and to provide you with a better experience on our websites The 22q11.2 duplication is in the same location that is deleted in 22q11.2 deletion syndrome, and usually about 1.5 to 3 Mb in length. The duplication of the 22q11.2 region is seen in 1 in 850 low. Some more of me discussing my children and experiences with the genetic chromosomal disorder, 22q11.2 duplication In children with 22q11.2 deletion syndrome, the thymus gland may be small or missing, resulting in poor immune function and frequent, severe infections. Cleft palate. A common condition of 22q11.2 deletion syndrome is a cleft palate — an opening (cleft) in the roof of the mouth (palate) — with or without a cleft lip reciprocal 22q11.2 deletions (a known strong risk factor) in 20 schizophrenia cases (0.29%) but in zero controls. No other CNV at any locus in the genome was found to be a putative protective factor at a nominal level of significance in this sample (data not shown). Expression analysis of 22q11.2 deletion and duplication carrier

Widespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated rates of community diagnoses of autism spectrum disorder (ASD), schizophrenia, and a range of medical problems and birth defects that. 22q11 - Free download as Word Doc (.doc / .docx), PDF File (.pdf), Text File (.txt) or read online for free 22q11.2 Microduplication Syndrome Is also known as duplication 22q11.2, chromosome 22q11.2 microduplication syndrome, trisomy 22q11.2, dup(22)(q11). Researches and researchers Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here 22q11.2 Duplication Syndrome (Chromosome 22Q11 2 Duplication Syndrome): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis

22q11.2 duplication syndrome - Wikipedi

  1. 22q11.2 duplication. 22q11.2 duplication is caused by an extra copy of some genetic material at position q11.2 on chromosome 22. In most cases, this extra genetic material consists of a sequence of about 3 million base pairs, also written as 3 megabases (Mb). This sequence is the same one that is missing in 22q11.2 deletion syndrome
  2. Clinical manifestations of 22q11.2 duplication syndrome (Dup(22)(q11)) can be different even in members of the same family. These include: hypotonia, slow growth, delay in development, intellectual disability, heart defects, and velopharyngeal insufficiency [15,16]. The incidence of Dup(22)(q11) is estimated as being half of that of 22q11.2DS
  3. The duplication of the 22q11.2 region has been reported to cause a different phenotypic spectrum (22q11.2 duplication syndrome; OMIM 608363). It is important to mention that most of the duplications are the reciprocal products of 22q11.2 deletions originated by inter-chromatid or inter-chromosomal NAHR (Figure 1A)

22q11.2 duplication syndrome is a rare genetic disorder caused by a duplication of a segment at the end of chromosome 22.. Presentation. The most frequent reported symptoms in patients with 22q11.2 duplication syndrome are mental retardation/learning disability (97% of patients), delayed psychomotor development (67% of patients), growth retardation (63% of patients) and muscular hypotonia (43%. This hypothesis is supported by the description of one family segregating the reciprocal duplication . Interestingly, the breakpoint of the only known recurrent, non-Robertsonian constitutional translocation in man, the t11:22, occurs in one of the 22q11 LCNRs (45, 46). Genes within the deletio

How do I request the 22q11.2 additional test option? Our updated request forms include the option of selecting 22q11.2 deletion. Tick this box if this is required. The 22q11.2 deletion cannot be requested in twin pregnancies or in pregnancies where the mother has a 22q11.2 duplication or deletion. There is an additional charge for 22q11.2 deletion This duplication may result in phenotypes similar to those associated with 22q11.2DS; however, this also occurs in individuals with a normal phenotype [8,9,10,11]. Less than 10% of patients with either 22q11.2 deletions or duplications are affected in a smaller 1.5 Mb region spanning LCR22A-B [ 12 , 13 , 14 ] The 22q11.2 deletion syndrome is the most frequent genomic disorder with an estimated frequency of 1/4000 live births. The majority of patients (90%) have the same deletion of 3 Mb (Typically Deleted Region, TDR) that results from aberrant recombination at meiosis between region specific low-copy repeats (LCRs). As a first step towards the characterization of recombination rates and. Chromosome 22, particularly band 22q11.2, is predisposed to rearrangements due to misalignments of low-copy repeats (LCRs). DiGeorge/velocardiofacial syndrome (DG/VCFS) is a common disorder resulting from microdeletion within the same band. Although both deletion and duplication are expected to occur in equal proportions as reciprocal events caused by LCR-mediated rearrangements, very few. Firth HV. 22q11.2 Duplication GeneReviews® [Internet] 2009 Feb 17 [Updated 2013 Nov 21]. Non-Invasive Chromosomal Evaluation of 22q11.2 (22Q). ClinicalTrials.gov Identifier: NCT02541058. Ou, Zhishuo et al. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

22q11.2 Deletion and Duplication Syndromes Children's ..

22Q11 Europe June 2019 — admin. Web: 22Q11 Europe. National alliance: No . Federation: Is federation . Paese: Belgium . Membership type: Associate member <DATA>22q11.2 deletion syndrome</DATA> <DATA>22q11.2 microduplication syndrome</DATA> <DATA>Chromosomal anomaly</DATA> <DATA>Rare. Chromosome 22q11.2 deletion syndrome (22q11.2del) is a complex, multi-organ disorder noted for its varying severity and penetrance among those affected. The clinical problems comprise congenital malformations; cardiac problems including outflow tract defects, hypoplasia of the thymus, hypoparathyroidism, and/or dysmorphic facial features Array CGH, Chromosome 22q11, Deletion, Duplication Background We present two patients with similar, small alterations of chromosome 22q11.21, deleted in the first and dupli-cated in the second patient. Both patients have central nervous system abnormalities rarely reported as fea-tures of chromosome 22q11 deletion or duplication syndromes 22q11.2 duplication syndrome has also been recently characterized as a different clinical entity with features overlapping 22q11.2 deletion syndrome . Since fewer duplications have been reported, it is suspected that the diagnosis of this condition is also biased [39 -43], a. 22q11.2 d uplication is caused by an extra piece of genetic material on the 22nd chromosome. The duplication can cause a wide range of health issues. However, many children have no noticeable symptoms

Chromosome 22q duplication Genetic and Rare Diseases

22q11 EUROPE ALLIANCE MEETING; 22q11 Ireland 2016 Final Accounts; Exciting Research Project for 18+ Yeep Project: Research Findings; 22q.org Infographic on 22q11 Deletion Sy; Where do parents learn about their chil Le syndrome de délétion 22q11.2, appelé aussi communément syndrome de DiGeorge ou syndrome vélocardiofacial, est une pathologie en rapport avec une microdélétion de la région chromosomale dite de DiGeorge (DGCR), située sur le locus 22q11 du chromosome 22, et qui entraîne la perte du gène TBX1.Les enfants porteurs de cette mutation présentent des malformations cardiaques dans 75 %. The 22q11.2 test option assesses the probability of 22q11.2 deletion. It does not provide a probability assessment for 22q11.2 duplication. 7) My patient has a diagnosis of 22q11.2 deletion. Is she eligible for the 22q11.2 test? No. The 22q11.2 test option cannot distinguish between maternal and fetal 22q11.2 deletions 22q11.2 duplication raises the risk of autism spectrum disorder and other problems affecting the brain and central nervous system (neurodevelopmental). 22q11.2 deletion increases the chance that they will develop schizophrenia as teenagers or adults The chromosome 22q11.2 region has long been implicated in genomic diseases. Some genomic regions exhibit numerous low copy repeats with high identity in which they provide increased genomic instability and mediate deletions and duplications in many disorders. DiGeorge Syndrome is the most common deletion syndrome and reciprocal duplications could be occurring in half of the frequency of.

22q11.2 Deletion syndrome or 22q (also referred to as Velocardiofacialsyndrome (VCFS), and/or DiGeorge syndrome) is a disorder caused by a small missing piece of the 22nd chromosome. This tiny missing portion of chromosome 22 can affect every system in the human body. 22q can be the cause of nearly 200 mild to serious health and developmental issues in children Support and encourage people residing in Northern Ireland who are affected by chromosome abnormalities including but not limited to 22q11.2 deletion, 22q11.2 duplication, Ring 22, 22q13 deletion, 22q13 duplication, mosaic 22q deletion, mosaic 22q duplication, 22q distal deletion and Trisomy 22 through the provision of recreation or other leisure time occupation for individuals, family and. 22q11.2 region is involved in DiGeorge (DGS, #188400) and 22q11.2 microduplication (#608363) syndromes. Most patients (85%) have a 3Mbp deletion/duplication; a subset of patients present with atypical deletions/duplications within the 3Mb region 1 Several recurrent microdeletions and microduplications in chromosome 22q11.2 have been identified, including chromosome 22q11.2 deletion syndrome [also known as DiGeorge syndrome (#188400) or velocardiofacial syndrome (#192430), hereafter 22q11.2DS], chromosome 22q11.2 deletion syndrome, distal (#611867), chromosome 22q11.2 duplication syndrome (#608363), and some others not recorded in. 22q11.2 microdeletion is the most common microdeletion in the global population. Congenital cardiac disease is the most frequently observed feature of this syndrome. The prognosis of patients with 22q11.2 copy number aberrations varies from those without 22q11.2 deletion or duplication

22q11.2 duplication: a review of neuropsychiatric ..

Classic Bladder Exstrophy: Frequent 22q11.21 Duplications and Definition of a 414 kb Phenocritical Region Markus Draaken*1,2, Friederike Baudisch1,3, Bernd Timmermann4, Heiner Kuhl4,MartinKerick4, Judith Proske5, Lars Wittler5, Tracie Pennimpede5, Anne-Karoline Ebert6, Wolfgang R€osch 7, Raimund Stein8, Enrika Bartels1, Catharina von Lowtzow1,2, Thomas M. Boemers9, Stefa Microduplications 22q11.2 have been recently characterized as a new genomic duplication syndrome showing an extremely variable phenotype ranging from normal or mild learning disability to multiple congenital defects and sharing some overlapping features with DiGeorge/velocardiofacial syndrome (DGS/VCFS), including heart defects, urogenital abnormalities and velopharyngeal insufficiency Duplication of the 22q11.2 proximal (A-D) region* is associated with a highly variable clinical phenotype, ranging from apparently normal to expression a broad range of clinical features, including nonspecific phenotypes (intellectual disability, learning disability, developmental delays, autism, psychiatric disorder growth delays, hypotonia) as well as phenotypes that overlap clinical. Wenger TL, Miller JS, DePolo LM, de Marchena AB, Clements CC, Emanuel BS, et al. 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening. Mol Autism. 2016;7:27. Article PubMed PubMed Central Google Scholar Download reference

22q11.2 Duplication - GeneReviews® - NCBI Bookshel

22q11.2 Microduplication with thyroid hemiagenesis — Seoul ..

22q11

22q11.2 microduplication syndrome and juvenile glaucom

Video: 22q11.2 Duplications - maxappeal.org.u

1q21
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