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  • 1
    Electronic Resource
    Electronic Resource
    Partielle Polysomie 22 ohne Cat eye (1996)
    Springer
    Monatsschrift Kinderheilkunde 144 (1996), S. 924-926 
    Details
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Cat-eye-Syndrom ; Katzenaugensyndrom ; Partielle Trisomie 22 oder partielle Tetrasomie 22 ; Extrachromosom ; In-situ-Hybridisierung ; Fluoreszenz ; Key words Cat eye syndrome ; Extrachromosome ; Fluorescence in situ hybridization ; Partial trisomy or tetrasomy 22
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary A child with typical signs of the cat eye-syndrom except the characteristic feature of a cat eye is reported. In a chromosome analysis (47,xx, + mar de novo) an extrachromosome was detected. Using fluorescence in situ hybridization the supernumerary marker refered to chromosome 22. In the literature only a few cases show all the characteristic features of cat eye syndrome. However, there are only two case reports of children without any ocular alterations. The great variability in the phenotype probably depends on different sizes of the marker chromosome or asymmetric breakpoints on the long arm of chromosome 22. According to new literature reports there is no correlation between the phenotypic variability and the size of the marker chromosome. Probably the degree of severity is correlated with the percentage of the patients lymphocytes that contain the extrachromosome.
    Notes: Zusammenfassung Vorgestellt wird ein Kind mit den typischen Symptomen eines Cat-eye-Syndroms jedoch ohne das namengebende Leitsymptom der Katzenaugen. Eine Chromosomenanalyse (47,XX- + mar de novo) ergab den Nachweis eines Markerchromosoms. Durch In-situ-Hybridisierung konnte nachgewiesen werden, daß es sich bei dem vorliegenden Markerchromosom um Material vom Chromosom 22 handelt. Das Vollbild des charakteristischen Cat-eye-Symptomen-Komplexes findet sich nur in der Minderzahl der in der Literatur erwähnten Fälle, jedoch gibt es bislang nur 2 Einzelbeobachtungen ohne Augenveränderungen. Als Erklärung für die große Variabilität des Phänotyps sind unterschiedliche Größen des vorhandenen Markerchromosoms und asymmetrische Bruchpunkte auf dem langen Arm des Chromosoms 22 denkbar. Nach neueren Untersuchungen ist die Variabilität des Phänotyps allerdings nicht mit der Größe des Markers korreliert.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001120050061
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Townes-Brocks-Syndrom Familienbericht über 3 Patienten mit variabler Symptomausprägung (1997)
    Springer
    Monatsschrift Kinderheilkunde 145 (1997), S. 382-386 
    Details
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Townes-Brocks-Syndrom ; Triphalangealer Daumen ; Analatresie ; Ohrmuscheldysplasie ; Innenohrschwerhörigkeit ; Key words Townes-Brocks-syndrome ; Triphalangeal thumb ; Anorectal malformation ; Satyr ears ; Sensoneural deafness
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The Townes-Brocks syndrome (TBS) has first been described in 1972. The characteristic features with variable penetrance and expression are: anorectal malformations – sensoneural deafness – satyr ears – polydactyly – triphalangeal thumb anomaly. A mother, her daughter, and son show the typical, variable phenotypic signs of TBS. The autosomal dominant inheritance as stated in the literature, can be shown in two generations of this pedigree.
    Notes: Zusammenfassung Beim erstmals 1972 beschriebenen Townes-Brocks-Syndrom handelt es sich um ein Dysmorphiesyndrom mit folgenden Merkmalen unterschiedlicher Penetranz: Analstenose, Analatresie, Innenohrschwerhörigkeit, triphalangeale Daumen oder Daumendoppelungen, Ohrmuscheldysplasie oder Ohranhängsel. Es wird eine Familie mit 3 erkrankten Mitgliedern (Mutter, Tochter, Sohn) vorgestellt, bei denen sich die Hauptmerkmale des Syndroms in unterschiedlicher Ausprägung finden. Der in der Literatur zitierte Erbgang ließ sich im Familienstammbaum in 2 Generationen nachvollziehen.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001120050137
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Outcome analysis of pyeloplasty in infants (2000)
    Springer
    Pediatric surgery international 16 (2000), S. 189-193 
    Details
    ISSN: 1437-9813
    Keywords: Key words Ureteropelvic junction obstruction ; Hydronephrosis ; Anderson-Hynes pyeloplasty
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  The study examined the outcome of pyeloplasties done for decompensated ureteropelvic junction (UPJ) obstruction in infancy over a 13-year period. In a retrospective study, 186 children who underwent pyeloplasty in infancy were analysed with particular emphasis on the pre- and postoperative findings of 123I hippuran scintigraphy/diuretic renograms. The pre- and postoperative management is outlined in detail. The 186 patients underwent a total of 203 pyeloplasties during the period from January 1983 to 31 December 1996. Three children died; one required a nephrectomy. The postoperative scintigrapic results of 156 children (85%) done about 12 months after surgery were available for evaluation: 101 (64%) showed stable renal function and 43 (27%) revealed more than 5% improvement of renal function. In 12 cases (7%) renal function deteriorated after pyeloplasty by more than 5% compared to the pre-operative scintigram. It is concluded that pyeloplasty in infants is a low-risk procedure. The encouraging results of this series support early correction of UPJ obstruction.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003830050720
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    Paper (German National Licenses)
    Fulltext
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