[Wiedemann-Beckwith syndrome: clinical characteristics, constitutional chromosome abnormalities and tumor incidence].

Abstract:

:The observation of constitutional chromosome abnormalities in a one and half year old boy with Wiedemann-Beckwith syndrome (WBS) and hepatoblastoma prompted us to review the currently available literature dealing with this subject. In approximately 500 published cases with complete and incomplete forms of WBS, 42 malignant and 9 benign neoplasms have been described. Malignant tumors, in particular, mainly consisted of nephroblastomas and adrenocortical carcinomas. The patient presented in this paper is the fourth with a hepatoblastoma. The constitutional karyotype was analysed in 84 cases; in 68 of them with banding techniques. Abnormalities have only been detected in 11 patients. A 47;XXY karyotype, an inversion of chromosome 2, a partial duplication of the long arm of chromosome 8 and reciprocal translocations t(11;22) and t(X;1), respectively, have been observed in one case each. Individually differing changes in the remaining six cases led to a common triplication of the region 11p15. This triplication has also been the only abnormality, which has so far been reported in one out of six investigated WBS patients with a tumor. Cytogenetic analysis in our case revealed an interstitial deletion of the short arm of chromosome 11 and a complete pericentric inversion of the chromosome 9 heterochromatin block. The breakpoints of the deletion, del(11) (p11.1p11.2), are located proximal of those (11p15) reported in anomalies of other WBS patients, as well as proximal of those involved in patients with the aniridia/Wilm's tumor complex (11p13-11p14). Inversion of the heterochromatin of chromosome 9 has been recognized as a normal variant, which generally remains without phenotypic effects.(ABSTRACT TRUNCATED AT 250 WORDS)

journal_name

Klin Padiatr

journal_title

Klinische Padiatrie

authors

Haas OA,Zoubek A,Grümayer ER,Ferstl G,Gadner H

doi

10.1055/s-2008-1026804

subject

Has Abstract

pub_date

1987-07-01 00:00:00

pages

283-91

issue

4

eissn

0300-8630

issn

1439-3824

journal_volume

199

pub_type

杂志文章
  • [Waardenburg syndrome type I--autosomal dominant hereditary combination of multiple facial anomalies with cochlear deafness (author's transl)].

    abstract::Waardenburg syndrome Type I is described on the basis of an observation of a family. The characteristic signs including lateral displacement of medial canthi ("telecanthus"), wide bridge of the nose, white forelock and severe cochlear deafness are found in one female patient only; however, her eyes are not of differen...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1033785

    authors: Meinecke P

    更新日期:1982-03-01 00:00:00

  • Which clinical and biological tumor markers proved predictive in the prospective multicenter trial HIT'91--implications for investigating childhood medulloblastoma.

    abstract:BACKGROUND:Most recent studies analyzing candidate biological prognostic factors in childhood medulloblastoma (MB) are limited by small patient numbers due to dependence on fresh-frozen tumor material. By contrast, large archives of formalin-fixed, paraffin-embedded MB samples exist from homogeneously treated patients....

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2007-985843

    authors: Grotzer MA,von Hoff K,von Bueren AO,Shalaby T,Hartmann W,Warmuth-Metz M,Emser A,Kortmann RD,Kuehl J,Pietsch T,Rutkowski S

    更新日期:2007-11-01 00:00:00

  • [Severe hyponatremia as diagnostic symptom of cystic fibrosis].

    abstract::Report on two babies, 5 and 6 months old with severe salt depletion were admitted to our hospital with fever and gastro-enteritis. One of them failed to thrive despite normal nutrition, the other one had a protracted gastro-enteritis. Both of them had a great loss of weight, a strong dehydration and were in reduced ge...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1043976

    authors: Sauter R,Will M,Helwig H

    更新日期:1997-11-01 00:00:00

  • [Quality standards and their assurance for study centers in the competence network malignant lymphoma].

    abstract:BACKGROUND:The aim of most of the trials of the Competence Network Malignant Lymphoma is to optimize the standard treatment of lymphoma using only registered drugs in the case of medicinal therapies (quality assurance protocols). In contrast to regulatory trials, special regulations for quality assurance protocols are ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2003-45493

    authors: Pfistner B,Mehl C,Klöss M,Löffler M,Herrmann-Frank A,Diehl V

    更新日期:2003-11-01 00:00:00

  • [Serum prolactin after cerebral and psychogenic seizures in childhood and adolescence--an additional useful method for differentiating the two forms of seizure].

    abstract::Prolactin levels were measured immediately after the seizure in some, and 15 to 20 minutes later in all of 67 children aged between 6 months and 17 years. Values were determined after grand mal, complex partial and petit mal seizures and psychogen seizures. A more than 2 to 3 fold prolactin increase over the baseline ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2007-1025341

    authors: Kurlemann G,Heyen P,Menges EM,Palm DG

    更新日期:1992-05-01 00:00:00

  • [Analysis of a Family-centred Care Programme with Follow-up Home-visits in Neonatology - In Times of the Directive from G-BA].

    abstract:BACKGROUND:Marked progress in neonatology changed care of very preterm infants (VLBW) over the last decades - but also the attitude towards family-centred care (FCC). With the directive of the German Federal Joined Committee (G-BA), politicians recognize the necessity of neonatal FCC. AIM:To evaluate time and personne...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-0042-102787

    authors: Hüning BM,Reimann M,Sahlmen S,Leibold S,Nabring JC,Felderhoff-Müser U

    更新日期:2016-07-01 00:00:00

  • Radio-immunodetection of myosarcoma using 111indium antimyosin.

    abstract::Radio-labelled antimyosin-monoclonal antibodies (AMA) have been introduced to demonstrate myocardial necrosis after cardiac infarction or in cardiac allograft transplants. As rhabdomyosarcoma (RMS) and leiomyosarcoma (LMS) are tumors of myogenic origin, thus often containing myosin, we decided to use the 111In-labelle...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2007-1025525

    authors: Koscielniak E,Reuland P,Schilling F,Feine U,Treuner J

    更新日期:1990-07-01 00:00:00

  • [Fournier's gangrene in a 2-month-old infant].

    abstract::A two month old boy with Fournier's Gangrene of the scrotum as a result of unnecessary needle puncture of the hydrocele is being reported. The importance of appropriate diagnosis operation and drug-therapy is also described. ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1034104

    authors: Heemann KF,Homann W,Pistor K

    更新日期:1984-11-01 00:00:00

  • [Elimination of fat emulsions of various concentrations from the blood. Observational study in the intravenous administration of Lipovenös 10% and 20% in premature infants with very low birth weight].

    abstract::Within the scope of an observation study 40 premature low birth weight infants requiring parenteral nutrition received either 10% or 20% lipid emulsions (Lipovenös) for 7 days. The 10% lipid emulsion differs from the 20% lipid emulsion in the higher phospholipid/triglyceride-ratio (0.06 resp. 0.12). Lipid infusion was...

    journal_title:Klinische Padiatrie

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1055/s-2007-1025318

    authors: Hanssler L,Schlotzer E,Blenkers B,Roll C,Zhou C,Kordass U

    更新日期:1992-01-01 00:00:00

  • Bleeding and thrombosis in children with acute lymphoblastic leukaemia, treated according to the ALL-BFM-90 protocol.

    abstract::A multi-center retrospective survey was conducted to evaluate the incidence and types of hemostatic complications occurring in children with acute lymphoblastic leukemia (ALL) during treatment according to the ALL-BFM-90 treatment protocol. All of the BFM-treatment centers (n = 77) were approached and a 95% response r...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章,多中心研究

    doi:10.1055/s-2008-1043788

    authors: Sutor AH,Mall V,Thomas KB

    更新日期:1999-07-01 00:00:00

  • [Cerebral AV fistula with cardiac insufficiency in newborns (author's transl)].

    abstract::A case of arteriovenous aneurysm of the great vein of Galen with congestive heart failure in a newborn infant is presented. Efficiancy of medical management and stop of growth of the head circumference point towards a good prognosis. Patients with this malformation have been divided into four clinical groups presentin...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:

    authors: Beitzke A,Zach M,Gypser G,Schreyer H

    更新日期:1977-09-01 00:00:00

  • [Lysozyme concentrations in the intestinal mucosa in malabsorption syndromes and chronic inflammatory intestinal diseases].

    abstract::Lysozyme levels were determined in the mucosa of gut in 80 children with chronic inflammatory bowel disease, malabsorption and acrodermatitis enteropathica.l Levels of lysozyme in the mucosa of colon were found to be significantly higher in cases with chronic inflammatory bowel disease, whereas in children with malabs...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2007-1025570

    authors: Dick W,Braun OH,Grosse KP,Riemann JF,Schmidt H

    更新日期:1984-01-01 00:00:00

  • [Anaphylactic shock reaction following intravenous administration of 7S immunoglobulin in patients with hypogammaglobulinemia, especially in children with acute lymphoblastic leukemia (ALL)].

    abstract::Severe anaphylactic reactions were observed in 2 children, aged 2 and 14 years, with acute lymphocytic leukemia and a 12 month old infant with a functional T-cell defect after intravenous administration of a polyethyleneglycol (PEG)-treated immunoglobulin preparation. All 3 children suffered additionally from hypogamm...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1026802

    authors: Manzke H,Seifert J

    更新日期:1987-07-01 00:00:00

  • [Delay of constitutional development--studies on therapy with growth hormone].

    abstract::Human growth hormone was given to 6 boys with constitutional delay of growth and development. Three patients had normal growth hormone responses following exercise or insulin-induced hypoglycemia. Subnormal growth rate (less than 2 SD below normal for bone age) was found in 4 patients. The mean growth rate of the pati...

    journal_title:Klinische Padiatrie

    pub_type: 临床试验,杂志文章

    doi:10.1055/s-2007-1025580

    authors: Butenandt O

    更新日期:1984-03-01 00:00:00

  • [Pneumatocele after hydrocarbon aspiration].

    abstract::Report of accidental ingestion and aspiration of lamp oil of a boy aged 16 months. He develops in a few hours a severe pneumonitis with tachycardia. Echocardiography shows diminished contractability. After losing his symptoms, the chest x-rays on the 13th day show bilateral pneumatoceles. The course remains asymptomat...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1043916

    authors: Leuchter D,Stübecke W,Oberschulte-Beckmann D

    更新日期:1998-11-01 00:00:00

  • Concomitant pilomatrixoma and peripheral schwannoma in a child.

    abstract:BACKGROUND:Peripheral schwannomas and pilomatrixoma are rare clinical features in childhood. The concomitant presence of these tumors in childhood are not described yet. PATIENTS:We describe the first case of a concomitant peripheral benign schwannoma and pilomatrixoma located at the head in a 10-year-old female patie...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2004-816279

    authors: Bittmann S,Ulus H

    更新日期:2005-01-01 00:00:00

  • [Transmission of the human immunodeficiency virus by a dry heat-treated Factor VIII concentrate?].

    abstract::Short presentation of the common procedures to avoid transmission of human-immunodeficiency-virus (HIV) by hemoderivates especially clotting-factor-preparations. The stepwise seroconversion (ELISA, IFT, Western-blot) of HIV is shown in a 7 5/12 ys old boy with hemophilia A after administration of a dry-heated factor V...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1033736

    authors: Weisser J

    更新日期:1988-09-01 00:00:00

  • [Evaluation of a Self-Help Supported Counseling Concept for Children and Adolescents with Disproportional Short Stature].

    abstract:BACKGROUND:Disproportionate short stature may impair the quality of life (QoL) of patients and their families. This study aimed to evaluate a self-help supported counseling concept to increase the QoL of the participants. METHODS:QoL data from 58 children/adolescents (8-17 years) with a diagnosis of achondroplasia was...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-0035-1564106

    authors: Rohenkohl AC,Sommer R,Kahrs S,Bullinger M,Klingebiel KH,Quitmann JH

    更新日期:2016-01-01 00:00:00

  • [Giant lymph nodes in combined autoimmune neutro- and thrombocytopenia].

    abstract::A boy aged 15 years is described in whom a combined autoimmune neutro- and thrombocytopenia developed since the age of 11. Cell-membrane bound IgG antibodies were detected on neutrophils and platelets. A therapy with prednisone and/or immunoglobulins showed only a transient normalization of the peripheral blood values...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1033676

    authors: Schneider H,Jobke A,Böhm N

    更新日期:1988-01-01 00:00:00

  • [Glutaric acidemia/glutaric aciduria I as differential chorea minor diagnosis].

    abstract::Glutaracidemia/glutaraciduria type I is an acute or subacute neuropathic disorder of infancy or early childhood. The following symptoms characterize the clinical course: macrocephalus present at birth, cerebral atrophy revealed by CT or MRI scans, most striking in the frontal and temporal lobes, choreoathetosis and dy...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2007-1025211

    authors: Voll R,Hoffmann GF,Lipinski CG,Trefz FK,Weisser J

    更新日期:1993-03-01 00:00:00

  • [5-day therapy of bacterial pharyngitis and tonsillitis with cefixime. Comparison with 10 day treatment with penicillin V. Cefixime Study Group].

    abstract::160 children aged 1 to 12 years with clinical diagnosis of bacterial pharyngitis and/or tonsillitis were treated either with cefixime ready-to-use-suspension or penicillin V in an open, controlled and randomized multicenter study. Before treatment a rapid antigen detection test was accomplished and throat swabs were t...

    journal_title:Klinische Padiatrie

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:10.1055/s-2008-1046489

    authors: Adam D,Hostalek U,Tröster K

    更新日期:1996-09-01 00:00:00

  • [Decrease in Group B Streptococcal Infections in Neonates: Analysis of Health Insurance Data 2005 to 2017].

    abstract:BACKGROUND:In the German guidelines for prophylaxis of group B streptococcal (GBS) early onset sepsis in neonates (EOS), GBS screening of all pregnant women has been recommended, but is not yet included in the Maternity Directives. Aim of the study was to identify temporal trends in incidence of EOS and their associati...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/a-1202-1758

    authors: Sorg AL,Obermeier V,Armann J,Klemme M,von Kries R

    更新日期:2021-01-01 00:00:00

  • Potential benefits from currently available three pneumococcal vaccines for children--population-based evaluation.

    abstract:BACKGROUND:Currently there are 3 pneumococcal vaccines available in Germany. The aim of this study is to evaluate the potential of the three currently available pneumococcal vaccines to reduce the burden of invasive pneumococcal disease in children. SUBJECTS:Children younger than 16 years who have been hospitalized be...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-0030-1268465

    authors: Rückinger S,van der Linden M,Siedler A,von Kries R

    更新日期:2011-03-01 00:00:00

  • Meconium aspiration syndrome--a 21-years' experience from a tertiary care center and analysis of risk factors for predicting disease severity.

    abstract::Aim of this study was to describe the course of perinatal factors in neonates with meconium aspiration syndrome (MAS) from 1990 to 2010 and to determine risk factors for a severe course of the disease.All neonates with MAS hospitalized in our level III neonatal intensive care unit from 1990 to 2010.Retrospective analy...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-0033-1361105

    authors: Hofer N,Jank K,Resch E,Urlesberger B,Reiterer F,Resch B

    更新日期:2013-12-01 00:00:00

  • [Screening for congenital hypothyroidism in Austria (author's transl)].

    abstract::Screening for Hypothyroidism is part of the Austrian Newborn Screening for Inborn Errors and centralized (ca. 85.000 births/year). It began 1976 in 2 provinces and covers the whole country since 7.6.1978. Primary T4 and selective TSH on 3 mm discs is used. Control frequency is 0.14%, the frequency of permanent primary...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1034501

    authors: Thalhammer O

    更新日期:1981-09-01 00:00:00

  • [Lipodystrophies].

    abstract::The lipodystrophy syndromes are rare disorders characterized by the loss of adipose tissue. The loss of fat tissue can have genetic, immune, or infectious/drug-associated causes. With the extent of fat loss metabolic complications, such as insulin resistance, diabetes mellitus, hypertriglyceridemia, and fatty liver in...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章,评审

    doi:10.1055/s-2002-30142

    authors: Fischer-Posovszky P,Debatin KM,Wabitsch M

    更新日期:2002-05-01 00:00:00

  • [Pseudoarthrosis in neurofibromatosis type 1].

    abstract::Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease. The clinical manifestations are diverse. Some of the skeletal changes are most relevant to the patient. We report on 9 patients with NF1 who presented with typical pseudarthrosis. In 8 of these children the lower extremity was involved. In 2 cas...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2000-9647

    authors: Ramelli GP,Slongo T,Weis J,Tschäppler H,Vassella F

    更新日期:2000-01-01 00:00:00

  • [Familial chromosome translocation (1;5;15) as a cause of partial trisomy 1p].

    abstract::An unbalanced structural chromosome aberration was found in a 6-year-old girl. Mother and maternal grandmother were shown to be carriers of a complex balanced translocation involving chromosomes 1, 5 and 15 and are of normal phenotype. The unbalanced status in the proband was defined as a partial trisomy 1p21-1p31. Pa...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1026754

    authors: Schürmann M,Wethling H,Niemeyer ML,Schwinger E

    更新日期:1987-01-01 00:00:00

  • [Cow milk-specific humoral and cellular immune response in infants with high risk of atopy under feeding a whey hydrolysate infant formula].

    abstract:BACKGROUND:Hypoallergenic infant formulas (HAF) were developed for atopy prevention in infants with high risk of atopy if these cannot be breastfed. HAF mount an antigen-specific immune response in infants. The aim of the study was to analyse the immune response in infants fed with a new infant formula based on a whey ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2003-42664

    authors: Nentwich I,Pazdírková A,Koberská I,Pokojská E,Szépfalusi Z,Lokaj J

    更新日期:2003-09-01 00:00:00

  • [Peritonitis and infection in children with idiopathic nephrotic syndrome].

    abstract::We analyzed episodes of peritonitis and/or sepsis associated with the idiopathic nephrotic syndrome (ns) in 23 children treated between 1975 and 1985 at our clinic. 37.5% of the children with infantile ns, 16% of those with steroidsensible ns, and 13.6% of those with steroidresistant ns developed peritonitis. Children...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1033683

    authors: Feldhoff C,Kleine L,Bachmann H

    更新日期:1988-01-01 00:00:00