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  • 1
    Keywords: 8Q24, AGE, ARRAYS, BURKITTS-LYMPHOMA, CHILDHOOD, CHROMOSOMAL-ABNORMALITIES, C-MYC, DELETION, DIAGNOS
    Abstract: Partial trisomies are chromosome abnormalities resulting in a broad range of malformations depending on the size and location of the chromosomal rearrangement. Whereas diagnosis of these syndromes is usually made in early childhood, few descriptions exist about the clinical picture in adulthood. We report on a patient diagnosed at the age of 43 years with a 47,X-Y,+der(22)t(8;22)(q24.13;q11.21) karyotype and predominant clinical features of trisomy 8q. To our knowledge, this is the oldest patient described with a partial trisomy 8. The patient presented with moderate intellectual disability, a past history of epilepsy and facial anomalies. In addition, a large cell non-Hodgkin lymphoma was diagnosed in adulthood. Detailed breakpoint mapping by single nucleotide polyrnorphism (SNP) arrays showed that the derivative chromosome contains a full-length copy of the C-MYC oncogene. Given that trisomy 8q is the most frequent secondary chromosomal abnormality in hematological diseases, the possibility of a genetic predisposition for these disorders in patients with 8q duplication is raised. (c) 2006 Wiley-Liss, Inc
    Type of Publication: Journal article published
    PubMed ID: 16838305
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  • 2
    Keywords: GENE ; DELETION ; COMPARATIVE GENOMIC HYBRIDIZATION ; IN-SITU HYBRIDIZATION ; TRANSLOCATION ; HEART-DISEASE ; CLINICAL-APPLICATION ; CHROMOSOMAL REARRANGEMENTS ; IDIOPATHIC MENTAL-RETARDATION ; DE-LANGE-SYNDROME
    Abstract: Cryptic subtelomeric chromosome rearrangements are a major cause of mild to severe mental retardation pointing out the necessity of sensitive screening techniques to detect such aberrations among affected patients. In this prospective study a group of 30 patients with unexplained developmental retardation and dysmorphic features or congenital abnormalities were analysed using the recently published multiplex FISH telomere (M-TEL) integrity assay in combination with conventional G-banding analysis. The patients were selected by one or more of the following criteria defined by de Vries et al.: (a) family history with two or more affected individuals, (b) prenatal onset growth retardation, (c) postnatal growth abnormalities, (d) facial dysmorphic features, (e) non-facial dysmorphism and congenital abnormalities. In addition, we included two patients who met these criteria and revealed questionable chromosome regions requiring further clarification. In four patients (13.3%) cryptic chromosome aberrations were successfully determined by the M-TEL integrity assay and in two patients with abnormal chromosome regions intrachromosomal aberrations were characterized by targetted FISH experiments. Our results accentuate the requirement of strict selection criteria prior to patient testing with the M-TEL integrity assay. Another essential precondition is high-quality banding analysis to identify structural abnormal chromosomes. The detection of familial balanced translocation carriers in 50% of the cases emphasizes the significance of such an integrated approach for genetic counselling and prenatal diagnosis.
    Type of Publication: Journal article published
    PubMed ID: 12136233
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  • 3
    Keywords: human ; HYBRIDIZATION ; SURGERY ; COMPLEX ; COMPLEXES ; IN-SITU ; AGE ; FISH ; ANOMALIES ; 5Q DELETION ; chromosome 5q- ; complex heart defect ; hCsx ; YAC clones
    Abstract: We describe a boy with multiple congenital anomalies including a complex heart defect, club feet, adducted thumbs, and facial dysmorphic features. He died at the age of 2 months following cardiac surgery. G-banding analysis identified an abnormal chromosome 5q suspected to be an interstitial deletion (5)(q33q35). Breakpoints of the deleted segment were confirmed as del(5)(q33.3q35) by multicolor fluorescence in situ hybridization (FISH) using two sets of combinatorially labeled band specific YAC clones. Findings are discussed in view of previously published cases
    Type of Publication: Journal article published
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  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Die 6-Phosphogluconatdehydrogenasen in Erythrocyten der Primaten lassen eine transspezifische Variabilität erkennen, die durch Ladungsunterschiede bedingt wird. Mit der Stärkegelelektrophorese können sechs verschiedene Enzymvarianten differenziert werden. Neben der 6-PGD A, die bei allen Menschenpopulationen eine sehr hohe Frequenz besitzt, und der 6-PGD B, der beim Menschen sehr selten vorkommenden Canning Variante, konnte bei subhumanen Primaten eine schneller wandernde Variante 6-PGD F und eine langsamer wandernde Variante 6-PGD C nachgewiesen werden. Bei den Simiae der Neuen Welt kommen zwei weitere Varianten vor: 6-PGD B′ mit einer elektrophoretischen Position zwischen 6-PGD B und 6-PGD A und 6-PGD A′ mit einer solchen zwischen 6-PGD A und 6-PGD F. Die Verteilung der verschiedenen 6-Phosphogluconatdehydrogenase-Phänotypen von 428 subhumanen Primaten wurde ermittelt.
    Notes: Summary The 6-Phosphogluconate Dehydrogenase in the erythrocytes of Primates show a transspecific variability, caused by differences in charge. Six kinds of genetically determined enzymes are distinguishable by means of starchgel-electrophoresis. Besides the 6-PGD A, the usual phenotype most frequent in human populations, and the 6-PGD B, the Canning variant very rare in human populations, a faster anodal migrating variant 6-PGD F and a slow migrating variant 6-PGD C were found to be present in subhuman Primates. In addition in some New World Monkeys two further variants could be demonstrated: 6-PGD B′ with an electrophoretic mobility intermediate between 6-PGD B and 6-PGD A and 6-PGD A′ with an electrophoretic mobility intermediate between 6-PGD A and 6-PGD F. The distribution of the various 6-PGD phenotypes in 428 subhuman Primates was estimated.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Die NAD-Malatdehydrogenase der Primaten zeigt eine genetisch determinierte Variabilität. Bei der Untersuchung von 425 subhumanen Primaten konnten vier Varianten nachgewiesen werden; ihre Verteilung wurde ermittelt.
    Notes: Summary The NAD-Malate dehydrogenase in the erythrocytes of Primates show a transspecific variability. Four variants were found to be present in subhuman Primates; their distribution in 425 individuals was estimated.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 11 (1971), S. 345-348 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Die Adenosindesaminasen der Primaten zeigen eine genetisch determinierte Variabilität. Bei der Untersuchung von 327 subhumanen Primaten (289 Simiae der Alten Welt, 38 Prosimiae) konnten wir neun Adenosindesaminase-Varianten nachweisen, die auf Grund ihrer unterschiedlichen elektrophoretischen Wandergeschwindigkeit als ADA 6, ADA 4, ADA 2, ADA 2′, ADA 1, ADA 3, ADA 5, ADA 5′ und ADA 7 bezeichnet werden. Die Verteilung der verschiedenen Phänotypen wurde ermittelt.
    Notes: Summary The polymorphism of adenosine deaminase has been investigated in 327 subhuman Primates (289 Old World Monkeys and 38 Prosimians). Nine adenosine deaminase variants were found to be present, which on the basis of their different electrophoretic mobilities were designated ADA 6, ADA 4, ADA 2, ADA 2′, ADA 1, ADA 3, ADA 5, ADA 5′ and ADA 7. The distribution of these various phenotypes has been estimated.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Die Phosphohexoseisomerasen der Primaten zeigen eine genetisch determinierte Variabilität. Bei der Untersuchung von 428 subhumanen Primaten konnten wir 9 PHI-Varianten nachweisen, die stärker negativ geladen sind und daher mehr anodisch wandern als das Isoenzym PHI 1, das bei allen Menschenpopulationen weitaus am häufigsten vorkommt. Sie werden abweichend von der beim Menschen üblichen Nomenklatur als PHI B-J bezeichnet; PHI 1 des Menschen wäre als PHI A in dieses System einzuordnen.
    Notes: Summary The polymorphism of phosphohexose isomerase has been investigated in 428 subhuman Primates. 9 phosphohexose isomerase variants were found to be present. All of these are more negatively charged than the major band of PHI 1, the most common phenotype of human population. The distribution of the various PHI phenotypes has been estimated.
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  • 8
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Galactosyl ceramide β-galactosidase activity was determined in chorionic villi (CV) samples obtained between the 9th and 11th weeks of gestation from 5 women with pregnancies at risk for Krabbe's disease (globoid-cell leukodystrophy, KD). These enzyme activities were compared with those in controls, as well as with those in cultured amniotic fluid cells (AFC) from one of the five at-risk pregnancies and from 29 KD-risk pregnancies studied previously. The results of these CV enzyme analyses were such that one case of fetal KD was clearly diagnosable, one fetal genotype heterozygous for KD was presumed, and three normal fetal genotypes were suggested. The use of both uncultured and cultered CV can be recommended for prenatal KD testing, but AFC may continue to play an important role, too. Of the 58 prenatal KD tests we have evaluated since 1974, a positive diagnosis of Krabbe's disease was made (and confirmed after termination of pregnancy when feasible) in 23 which is significantly more than 25% of 58.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary To verify the reliability of secretor status for prenatal diagnosis of myotonic dystrophy (DM), 179 amniotic fluid samples were compared with saliva or urine samples of the infants by hemagglutination inhibition. While no discrepancies were observed, problems could arise with intermediate results. Additionally, secretor typing is only informative in 8.4% of patients.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Es wurden die Elektrophoresemuster der Phosphohexoseisomerase beim Schwein untersucht. Gewebsspezifische Unterschiede waren nicht nachweisbar. In einer Populationsstichprobe von 200 Schweinen (Lebergewebe) wurden drei verschiedene Phänotypen gefunden; die Häufigkeit für das Allel PHIb beträgt 0.247.
    Notes: Summary The electrophoretic patterns of phosphohexose isomerase has been examined in different organs of pigs. There are no tissue-specific differences. In a population sample of 200 specimen of pig liver three different phenotypes have been found; the frequency for PHIb is 0.247.
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