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Maternal uni parental disomy 2

Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture. Harrison K(1), Eisenger K, Anyane-Yeboa K, Brown S. Author information: (1)Morristown Memorial Hospital, New Jersey, USA. We describe the first case of a baby with maternal uniparental disomy of chromosome 2 First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant Mol Genet Genomic Med. 2020 Mar;8(3):e1144. doi: 10.1002/mgg3.1144. Epub 2020 Jan 27. Authors Ping Zhang. Maternal uniparental disomy (UPD) for chromosome 2 was suspected. Evaluation of polymorphic DNA markers (STRs) spanning chromosome 2 of the child, mother, and presumptive father demonstrated that the girl had inherited two maternal chromosome 2 homologues, whereas alleles for markers from other chromosomes were inherited from the father in a Mendelian fashion @article{osti_466718, title = {Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture}, author = {Harrison, K and Eisenger, K and Brown, S}, abstractNote = {We describe the first case of a baby with maternal uniparental disomy of chromosome 2. Growth failure, hypothyroidism, and hyaline membrane disease were present at birth, and the first year.

Uniparental disomy may have clinical relevance for several reasons. For example, either isodisomy or heterodisomy can disrupt parent-specific genomic imprinting , resulting in imprinting disorders. Additionally, isodisomy leads to large blocks of homozygosity , which may lead to the uncovering of recessive genes, a similar phenomenon seen in inbred children of consanguineous partners We describe the first case of a baby with maternal uniparental disomy for chromosome 2. Growth failure, hypothyroidism and hyaline membrane disease were present at birth, and the first year of life was complicated by bronchopulmonary dysplasia. At 14 months, motor and intellectual development appear. Uniparental Disomy. Uniparental disomy (UPD) refers to the presence of both homologs of a chromosome pair or chromosomal region in a diploid offspring being derived from a single parent. Duplication of maternal genes within 7p11.2-p13 is also associated with this disorder

Context: Maternal uniparental disomy for chromosome 20 [UPD(20)mat], resulting in aberrant expression of imprinted transcripts at the GNAS locus, is a poorly characterized condition. These patients manifested a phenotype similar to that of Silver-Russell syndrome (SRS) and small for gestational age-short stature (SGA-SS); however, the etiological relationship between UPD(20)mat and SRS/SGA-SS. MATERNAL UNIPARENTAL DISOMY 22 Table I-Clinical findings in the present case compared with full trisomy 22 and with cases of mosaic trisomy 22 83 Full trisomy 22* Mosaic trisomy 22t (n=28, perc.) (poshotal number) Present case Severe IUG Except for the possibility of homozygosity for recessive mutations, maternal uniparental disomy 2 appears to have no adverse impact on the phenotype. Our data indicate that no maternally imprinted. Uniparental disomy refers to the situation in which 2 copies of a chromosome come from the same parent, instead of 1 copy coming from the mother, and 1 copy coming from the father. Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are examples of disorders that can be caused by uniparental disomy

We report a liveborn infant with severe intrauterine growth retardation and renal failure, delivered following detection of non‐mosaic trisomy 2 by chorionic villus biopsy in the first trimester. Det.. Uniparental disomy (UPD) is a rare condition in which a child inherits both copies of a chromosome or chromosome segment from one parent. Medical consequences of UPD may include abnormal imprinting, unmasking of genetic disease, and somatic mosaicism; alternatively, the condition may be clinically silent. We present a case of maternal UPD for chromosome 6, a rare condition previously reported. maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios WENDY F. HANSEN Department of Obstetrics and Gynaecology, University of North Carolina at Chapel Hill, North Carolina, U.S.A maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios WENDY F. HANSEN Department of Obstetrics and Gynaecology, University of North Carolina at Chapel Hill, North Carolina, U.S.A Results

Maternal uniparental disomy of chromosome 2 in a baby with

First maternal uniparental disomy for chromosome 2 with

  1. Uniparental disomy is a genetic cause of disease that may result in the inheritance of an autosomal recessive condition. A child with developmental delay and hypotonia was seen and found to have severely abnormal myelination. Lysosomal enzyme testing identified an isolated deficiency of beta-galactosidase. Subsequently, homozygous missense mutations in the galactosidase, beta 1 (GLB1) gene on.
  2. Uniparental disomy is the inheritance of both chromosome homologues from one parent with no functional copy from the other. Since the first reports of Temple et al in 1991, a well characterised clinical phenotype has emerged for both maternal uniparental disomy of chromosome 14 (UPD14)
  3. In 65%-75% of cases, the cause is a deletion of the father's chromosome in the 15q11-q13 region, 20%-30% of patients will have maternal uniparental disomy of chromosome 15, and a defect in the region that controls the imprinting process is responsible in only 1%-3% of patients (6,7)
  4. uniparental disomy (dī-sō′mē), UPD The inheritance of two copies of a chromosome from one parent and none from the other parent. UPD results in a normal number of inherited chromosomes but with inadequate contribution of genetic material from one of the parents. It may result in the expression of recessive genes, as in Prader-Willi syndrome.

Uniparental disomy. Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent. UPD can occur as a random event during the formation of egg or sperm cells or may happen in early fetal development Maternal Uniparental Disomy for Chromosome 14 - Volume 45 Issue 1-2 - D.A. Coviello, E. Panucci, M.M. Mantero, C. Perfumo, M. Guelfi, C. Borrone, F. Dagna Bricarell A New Genetic Concept: Uniparental Disomy and Its Potential Effect, Isodisomy Eric Engel Institute of Medical Genetics , Geneva although such an interference appears less and less certain for maternal chromosome 2, still quite likely for maternal chromosome 16 and definite for chromosome 20, both. Maternal uniparental disomy 14q32.2 (UPD(14)mat) is associated with Temple syndrome that is characterized by growth failure, muscular hypotonia, precocious puberty, feeding difficulties, and small hands and feet, while paternal uniparental disomy 14q32.2 (UPD(14)pat) is associated with Kagami-Ogata syndrome that is characterized with facial 'gestalt' with full cheeks and protruding. Martin RA, Sabol DW, Rogan PK (1999) Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2). J Med Genet 36:633-636 CA

Maternal uniparental disomy for chromosome 20 [UPD(20)mat], resulting in aberrant expression of imprinted transcripts at the GNAS locus, is a poorly characterized condition. These patients manifested a phenotype similar to that of Silver-Russell syndrome (SRS) and small for gestational age-short stature (SGA-SS); however, the etiological relationship between UPD(20)mat and SRS/SGA-SS remains. Maternal Uniparental Disomy Of Chromosome 2: Read more about symptoms, causes, diagnosis, tests, types, drugs, treatments, prevention, and more information Read Detection of maternal uniparental disomy at the two imprinted genes on chromosome 7, GRB10 and PEG1/MEST , in a Silver-Russell syndrome patient using methylation-specific PCR assays, Clinical Genetics on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips Uniparental disomy (UPD) is defined as an inheritance of both homologous chromosomes from a single parent without contribution from the other parent [].Based on different mechanisms and different origins of the disomic chromosome, UPD can present as maternal UPD, paternal UPD, uniparental heterodisomy (hUPD, two different chromosomal homologs inherited from the same parent), uniparental. Maternal Uniparental Paternal Disomy One chromosome from each parent Mat Pat Mat Mat Pat Pat A. B. C. TIG 34/12 Updated September 2017 Review Date September 2019 Page 2 of 3 What does UPD mean for my child? There are genes on chromosomes 14 and 15 which are 'switched off' when the egg or sperm are.

Maternal uniparental disomy (UPD) for chromosome 2

UPD 2; Uniparental disomy of 2. Learn More Learn More Listen. These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review. I have a two year old child that is FTT. After a recent consutation with a geneticist, this problem, Uni-Parental Disomy (Chromosome 7) was suggested. Could this cause drastic growth delays. He is currently well below the growth curve. He is 29 months old to the day, born at 37 weeks. His birth weight was 3# 7oz

Uniparental disomy (UPD) is an unusual situation wherein two homologous chromosomes are inherited from the same parent. UPDs can cause clinical abnormalities owing to the aberrant dosage of genes. Genomic imprinting is an epigenetic phenomenon identified in the past 15 years. Thus, maternally imprinted genes are only expressed from the paternal allele and vice versa. The mechanism of imprinting is still far from certain, but most probably it involves differential methylation of specific sites in or near imprinted genes. Disrupted imprinting can lead to phenotypic changes, and an. Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copy from the other parent. UPD can be the result of heterodisomy, in which a pair of non-identical chromosomes are inherited from one parent (an earlier stage meios

Distinct phenotype in maternal uniparental disomy of chromosome 14. Healey S, Powell F, Battersby M, Chenevix-Trench G, McGill J. Am J Med Genet, 51(2):147-149, 01 Jun 1994 Cited by: 38 articles | PMID: 8092191. Revie The evidence that maternal nondisjunction represents the first step in the process of maternal uniparental disomy in Prader—Willi syndrome is supported by a maternal-age effect , which has been. Prader-Willi syndrome is caused by absence of the paternally derived 15q11.2-q13 region by one of several genetic mechanisms. Approximately 70% of individuals have a deletion in the paternal 15q11.2-q13 region. Approximately 25%-35% of individuals have maternal uniparental disomy, receivin Uniparental disomy is a genetic cause of disease implicated in a wide variety of neurologic disorders. A recently identified condition is maternal uniparental disomy for chromosome 14 (mUPD14) syndrome. A child with hypotonia and developmental delay was found to have mUPD14 after identification of a balanced karyotypic rearrangement involving both chromosomes 14

Concept of uniparental disomy (UPD) UPD as a concept was first introduced by Engel in 1980 and was defined as the inheritance or presence in a diploid offspring of both homologs of a pair of chromosomes from one parent only with no contribution from the second parent ().Depending on the origin of the disomic chromosome, UPD is denoted as maternal or paternal Maternal uniparental disomy 14 (Temple syndrome) Paternal uniparental disomy 14. Prader-Willi syndrome, Angelman syndrome, and Beckwith-Wiedemann syndrome can be due to other genetic causes in addition to uniparental disomy (UPD 1), and for convenience we include a discussion of these other causes in this chapter CASE REPORT Open Access Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability Shujie Zhang1†, Haisong Qin1†, Jin Wang1, Luping OuYang1, Shiyu Luo1, Chunyun Fu1, Xin Fan1, Jiasun Su1, Rongyu Chen1, Bobo Xie1, Xuyun Hu1, Shaoke Chen1* and Yiping Shen1,2* Abstrac

Uniparental disomy - Wikipedi

Maternal uniparental disomyfor chromosome 14 I KTemple, ACockwell, THassold, DPettay, PJacobs Abstract Wereport the first case of maternal uniparental disomy of chromosome 14 in humans. The male proband inherited a balanced 13;14 Robertsonian translocation from his mother. Molecular studie Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis. Chan, Alvin P. MD, MPH 1; Mulatinho, Milene PhD 2; Iskander, Paul MD 3; Lee, Hane PhD 2; Martinez-Agosto, Julian A. MD, PhD 4,5; Yeh, Joanna MD 1. Author Informatio However, maternal uniparental disomy of chromosome 20 is known to cause certain skeletal defects on the fingers, which I have (I am missing 3 knuckles). It also could cause hormone resistance (PTH, TSH, gonadotropins) which is what I am concerned about Maternal Uniparental Disomy for Chromosome 7. About 10% of SRS cases are due to maternal uniparental disomy of chromosome 7 (summary by Penaherrera et al., 2010).. Eggerding et al. (1994) noted that 3 cases of maternal uniparental disomy for chromosome 7 (mUPD7) had been reported in patients with intrauterine and postnatal growth retardation. Two patients were detected because they were. Calton EA, Temple IK, Mackay DJG, Lever M, Ellard S, Flanagan SE, et al. Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism. Eur J Med Genet. 2013;56(2):114-7. Article Google Schola

Uniparental Disomy - an overview ScienceDirect Topic

Maternal Uniparental Disomy for Chromosome 20: Physical

(PDF) Maternal Uniparental Disomy for Chromosome 14Uniparental disomy (UPD) formation after the rescue of aGenetics Review (8): Non-Traditional Inheritance I

Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copy from the other parent. UPD can be the result of heterodisomy, in which a pair of non-identical chromosomes are inherited from one parent (an earlier stage meiosis I error) or isodisomy, in which a single chromosome from one parent is duplicated (a later. uniparental disomy: mechanisms and clinical consequences - volume 14 issue 2 - lisa g shaffer 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

Uniparental Disomy: Prader-Willi Syndrome, Angelman

Synonyms for Disomy in Free Thesaurus. Antonyms for Disomy. 2 words related to aneuploidy: abnormalcy, abnormality. What are synonyms for Disomy Hvis du besøker vår ikke-engelske versjonen og ønsker å se den engelske versjonen av Uniparental Disomy, kan du bla ned til bunnen og du vil se betydningen av Uniparental Disomy i engelsk språk. Husk at forkortelsen for UPD er mye brukt i bransjer som bank, databehandling, utdanning, økonomi, myndigheter og helse T has maternal UPD 14. Uniparental Disomy 14 (UPD14) This information guide is not a substitute for personal medical advice. Families should consult a medically qualified clinician in all matters relating to genetic diagnosis, management and health. Information on genetic changes is a very fast-moving field and while th Overview of Uniparental disomy of 6 as a medical condition including introduction, prevalence, prognosis, profile, symptoms, diagnosis, misdiagnosis, and treatmen

Paternal uniparental disomy 14; Kagami-Ogata syndrome; MCA due to 14q32.2 maternally expressed gene defect. Categories: Congenital and Genetic Diseases. Symptoms Symptoms Listen. This table lists symptoms that people with this disease may have. For most diseases. Hansen WF, Bernard LE, Langlois S, Rao KW, Chescheir NC, Aylsworth AS, et al. Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios. Prenat Diagn 1997; 17: 443-450. View article Google Schola Uniparental disomy was found in 1 of 50,000 people on TWO CHROMOSOMES. This is NOT the reason you have more maternal or paternal matches, in general. Legitimate reasons for more matches on one parent's line include the fact that one family or another historically has more or fewer descendants, more or fewer dead ends, recent immigrants.

To the Editor : Silver-Russell syndrome (SRS; OMIM 180860) is a congenital disorder characterized by pre- and postnatal growth retardation, relative macrocephaly, and a triangular face ( 1, 2 ). No single genetic cause for SRS has been found, but maternal uniparental disomy for chromosome 7 (matUPD7) has been identified in 7-10% of patients with SRS, suggesting possible association of. 2. Kotzot D, Utermann G: Uniparental Disomy (UPD) other than 15: phenotypes and bibliography updated. Am J Med Genet. 2005;136A:287-305. 3. Kotzot D: Prenatal testing for uniparental disomy: indications and clinical relevance. Ultrasound Obstet Gynecol. 2008:31:100-105. 4. Engel E: A fascination with chromosome rescue in uniparental disomy.

Maternal uniparental disomy for chromosome 14 in a boy

Maternal Uniparental Disomy for Chromosome 2 in

Background Myoclonus-dystonia is a movement disorder often associated with mutations in the maternally imprinted ε-sarcoglycan (SGCE) gene located on chromosome 7q21.Silver-Russell syndrome is a heterogeneous disorder characterized by prenatal and postnatal growth restriction and a characteristic facies, caused in some cases by maternal uniparental disomy of chromosome 7 Uniparental disomy ted from the mother and one from the father. Uniparental disomy ((UPD) is an atypical inheritance pattern in which both members of a UPD) is an atypical inheritance pattern in which both members of a ssingle pair of chromosomes are inherited from one parent.ingle pair of chromosomes are inherited from one parent. Furthermore, maternal uniparental disomy of chromosomes 6, 16 and 20 can be observed, but are rare. In case they occur they can be regarded as causative for clinical features. Keywords: Uniparental disomy, Temple syndrome, Silver-Russell syndrome, upd(6)mat, upd(16)mat, upd(20)mat The finding of somatically acquired uniparental disomy, where both copies of a chromosome pair or parts of chromosomes have originated from one parent, has led to the discovery of several novel mutated genes in myeloproliferative neoplasms and related disorders. This article examines how the development of single nucleotide polymorphism array technology has facilitated the identificatio Rongyu Chen1, Bobo Xie1, Xuyun Hu1, Shaoke Chen1* and Yiping Shen1,2* Abstract Background: Both maternal uniparental disomy 14 (UPD(14)mat) and mosaic trisomy 14 are rare events in live individuals. A combination of the two events in one individual is rarely encountered. Only six live-born cases have so far been reported

Maternal uniparental isodisomy for chromosome 6 discovered

(1997) Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth retardation, hypospadias, and oligohydramnios. Prenat Diagnosis 17: 443 - 450 Uniparental Disomy: UPD occurs when both copies of a gene or genomic region are inherited from the same parent.This is Copy neutral LOH (acquired uniparental disomy) has been reported at key loci in ALL, such as CDKN2A gene at 9p, which haveGondek LP, Tiu R, O'Keefe CL, Sekeres MA, Theil KS, Maciejewski J (February 2008). Chromosomal lesions and uniparental disomy.. Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are complex neurodevelopmental genetic disorders characterized by developmental delay and intellectual disability.AS is caused by the loss of function of maternally inherited genes within 15q11.2-q13 due to deletion, paternal uniparental disomy, ubiquitin-protein ligase E3A (UBE3A) gene variants, imprinting defects, translocation defects. This unusual form of inheritance is known as maternal uniparental disomy. Using molecular genetic techniques, we sought to determine the frequency of uniparental disomy in Prader—Willi syndrome. We performed molecular analyses using DNA markers within 15q11q13 and elsewhere on chromosome 15 in 30 patients with Prader—Willi syndrome who had.

Maternal Uniparental Disomy of Chromosome 2 and Confined

Rationale: Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. Patient concerns: We report prenatal phenotypes of 2 rare cases of UPD. Diagnoses: The prenatal phenotype of case 1 included sonographic markers such as. is consistent with uniparental disomy (UPD) of chromosome #15. If both chromosome #15 are inherited from the mother only, it is called maternal UPD(15). Maternal UPD(15) is associated with Prader-Willi syndrome. On the other hand, paternal UPD(15), when both chromosome #15 are inherited from the father, can lead to Angelman syndrome (AS) The best examples of this are Prader-Willi and Angelman syndromes in which maternal and paternal uniparental disomy (for chromosome 15), respectively, are reported. Other examples include Russell-Silver syndrome (chromosome 7) and Beckwith-Wiedemann syndrome (chromosome 11) Origin of Uniparental Disomy 15 in Patients With Prader-Willi or Angelman Syndrome Cintia Fridman* and Ce´lia P. Koiffmann Department of Biology, Institute of Bioscience, University of Saˆo Paulo, Saˆo Paulo, Brazil Maternal uniparental disomy (UPD) ac-counts for ∼25% of Prader-Willi patients (PWS) and paternal UPD for about 2-5% o I suspect that I might have a maternal uniparental disomy 16, although I've never had any birth defects or significant growth retardation. I was diagnosed with Asperger's when I was about 8 and there is no history of autism anywhere else in my family, but I have no other genetic problems as far as I know. Also, I know with 99.99% certainty that.

Mosaic trisomy 2 with maternal uni parental disomy 2 t

Objective: Not applicable Background: Russell Silver Syndrome (RSS) is a condition characterized by prenatal and postnatal growth restriction and dysmorphic features, most often caused by hypomethylation of the paternal imprinting center 1 of chromosome 11p15.5 or maternal uniparental disomy of chromosome 7 (mUPD7). Myoclonus Dystonia Syndrome (MDS) is associated with autosomal dominant. Web: mayocliniclabs.com: Email: mcl@mayo.edu: Telephone: 800-533-1710: International: +1 855-379-3115: Values are valid only on day of printing Uniparental disomy of 6: Testing. Diagnostic testing: see tests for Uniparental disomy of 6. Misdiagnosis: see misdiagnosis and Uniparental disomy of 6. How is it treated? Doctors and Medical Specialists for Uniparental disomy of 6: Medical Geneticist; see also doctors and medical specialists for Uniparental disomy of 6. Treatments for. Valid for Submission. Q99.8 is a billable code used to specify a medical diagnosis of other specified chromosome abnormalities. The code is valid for the fiscal year 2021 for the submission of HIPAA-covered transactions. The ICD-10-CM code Q99.8 might also be used to specify conditions or terms like 49,xxxyy syndrome, abnormal spermatogenesis, acute myeloid leukemia with cebpa somatic.

The dilemma of diagnostic testing for Prader-WilliMedical Genetics Flashcards by ProProfsDiseases | Free Full-Text | Prader-Willi Syndrome: The

Uniparental disomy (UPD), a nonmendelian form of inheritance, is a condition in which a disomic individual has inherited both copies of a chromosome from one parent only and is a consequence of at least two independent errors occurring during meiosis or immediately after fertilization (1, 2) (Figs 1 and 2 respectively). Depending on the. Uniparental disomy testing is available for all chromosomes. PCR and microsatellite markers on the chromosome of interest are used to test DNA from parents and child for the presence of uniparental disomy. (2 copies of the maternal chromosome 15 instead of 1 maternal and 1 paternal copy of chromosome 15), it causes Prader-Willi syndrome due. Maternal Uniparental Disomy (UPD) 14. o Caused by absence of the paternal copy of chromosome region 14q32.2. • Paternal Uniparental Disomy (UPD) 14. o. Caused by absence of the maternal copy of chromosome region 14q32. • Paternal Uniparental Disomy (UPD) 15 (Angelman syndr ome) o Angelman syndrome(AS) is caused by abnormal or disrupted.

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