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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Molecular studies have shown microdeletions in region q11 of chromosome 22 in nearly all patients with DiGeorge, velocardiofacial and conotruncal anomaly face syndromes (DGS, VCFS and CTAFS, respectively) and in a high percentage of non-syndromic familial cases of conotruncal defects (CTD). CTD account for roughly a fourth to a third of all non-syndromic congenital heart defects (CHD), thus, 22q11 could harbor a major genetic factor of CHD. We searched for a 22q11 microdeletion in familial cases of non-syndromic CTD. Thirty-six cases of various isolated CTD, that is without history of hypocalcemia, immune deficiency, absent thymus, and dysmorphic appearance, were selected. With 48178, a cosmid probe localized in the smallest deleted region of the DiGeorge critical region (DGCR), we found no deletions by fluorescence in situ hybridization in these 36 affected individuals of 16 families with recurrent CTD. Moreover, D22S264, a microsatellilte localized at the distal part of the largest deleted region, was used to genotype the patients. Thirty-two patients out of 37 were heterozygous and hence not deleted at this locus, whereas 5 were uninformative. In conclusion, there are no large deletions in familial cases of various CTD, whether these defects are identical or not within a family. This result does not rule out other minor anomalies in this chromosomal region.
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  • 2
    Electronic Resource
    Electronic Resource
    Copenhagen : International Union of Crystallography (IUCr)
    Applied crystallography online 30 (1997), S. 71-72 
    ISSN: 1600-5767
    Source: Crystallography Journals Online : IUCR Backfile Archive 1948-2001
    Topics: Geosciences , Physics
    Notes: A practical, step-by-step description of the construction of loops for protein cryocrystallography using pulled-out micro-injection capillaries is described. The advantages of this method are the high reproducibility of the loops, the ease of adjustment of the loop diameter and the formation of thin films owing to the narrow base of the loop. During assembly, the loop does not make contact with either glue or cement.
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Molecular studies have shown microdeletions in region q11 of chromosome 22 in nearly all patients with DiGeorge, velocardiofacial and conotruncal anomaly face syndromes (DGS, VCFS and CTAFS, respectively) and in a high percentage of non-syndromic familial cases of conotruncal defects (CTD). CTD account for roughly a fourth to a third of all non-syndromic congenital heart defects (CHD), thus, 22q11 could harbor a major genetic factor of CHD. We searched for a 22q11 microdeletion in familial cases of non-syndromic CTD. Thirty-six cases of various isolated CTD, that is without history of hypocalcemia, immune deficiency, absent thymus, and dysmorphic appearance, were selected. With 48F8, a cosmid probe localized in the smallest deleted region of the DiGeorge critical region (DGCR), we found no deletions by fluorescence in situ hybridization in these 36 affected individuals of 16 families with recurrent CTD. Moreover, D22S264, a microsatellilte localized at the distal part of the largest deleted region, was used to genotype the patients. Thirty-two patients out of 37 were heterozygous and hence not deleted at this locus, whereas 5 were uninformative. In conclusion, there are no large deletions in familial cases of various CTD, whether these defects are identical or not within a family. This result does not rule out other minor anomalies in this chromosomal region.
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  • 4
    ISSN: 1435-1285
    Keywords: Key words Cardiovascular malformations — birth prevalence — fatality rate — classification ; Schlüsselwörter Kardiovaskuläre Fehlbildungen — Geburtsprävalenz — Letalität — Klassifikation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The study presents data on cardiovascular malformations in Bavarian livebirths, born between 1984 and 1991. Cases have been ascertained retrospectively by reviewing hospital records of all children being referred to a children's hospital up to 2 years of age. The classification scheme was based on abnormalities in developmental mechanisms. Among 984,570 livebirths, 7020 cases with structural congenital heart disease were identified. The birth prevalence was 7.1 per 1000 livebirths. Between 1984 and 1991, total prevalence increased from 5.9/103 to 8.0/103. Prevalence in males was 7.3/103 and in females 6.9/103. 78.1% of all heart defects were isolated, the remaining 21.9% were associated either with chromosomal abnormalities (9.6%), non-chromosomal syndromes (1.0%), or noncardiac malformations of other organ systems (11.3%). Total fatality rate was 12.0%, with two thirds of deaths occurring within a month of birth or the following month of life. Data were compared with those of the Baltimore-Washington Infant Study. This study presents for the first time regional data on birth prevalences of congenital heart defects in Germany. The classification scheme reduces the wide spectrum of phenotype cardiovascular defects to several pathogenetic groups. The defects in each group may be related to similar causal factors.
    Notes: Zusammenfassung In einer retrospektiven Erhebung in den bayerischen und zwei grenznahen Kinderkliniken wurden die Lebendgeborenen der Geburtsjahrgänge 1984–1991 mit Wohnsitz in Bayern erfaßt, die während ihrer ersten beiden Lebensjahre wegen einer kardiovaskulären Fehlbildung behandelt wurden. Die Klassifikation der Herz- und Gefäßanomalien erfolgte nach einem an der Störung embryonaler Entwicklungmechanismen orientierten Schema. Unter den 984 570 Lebendgeborenen in Bayern wurden während des achtjährigen Beobachtungszeitraumes 7020 Kinder mit einem Herzfehler diagnostiziert. Das entspricht einer Geburtsprävalenz von 7,1 pro 1000 Lebendgeborene. Zwischen 1984 und 1991 stieg die Gesamtprävalenz von 5,9/103 auf 8,0/103 an. Knaben waren mit 7,3/103 häufiger betroffen als Mädchen mit 6,9/103 Lebendgeborene des jeweiligen Geschlechts. 78,1% der Defekte traten isoliert auf, die restlichen 21,9% in Kombination mit chromosomalen Störungen (9,6%), nichtchromosomalen Syndromen (1,0%) und nichtsyndromalen Fehlbildungen anderer Organe (11,3%). Die Letalität der Gesamtgruppe bis zum Ende des zweiten Lebensjahres betrug 12,5%, wobei etwa zwei Drittel der Todesfälle in den Geburts- und Folgemonat fielen. Die Daten werden mit denen der Baltimore-Washington Infant Study verglichen. Die Studie präsentiert erstmals flächendeckende Daten zu angeborenen Herzfehlern in Deutschland. Das angewandte Klassifikationsschema faßt die große Zahl anatomischer Defekte des Herz-Gefäß-Systems zu denkbaren pathogenetischen Gruppen zusammen, die möglicherweise durch ähnliche Kausalfaktoren bedingt sind.
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