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  • 1
    Electronic Resource
    Electronic Resource
    New chromosomal dysmorphic syndromes (1977)
    Springer
    European journal of pediatrics 126 (1977), S. 109-125 
    Details
    ISSN: 1432-1076
    Keywords: Partial trisomy 10p ; Malformation-retardation-syndrome ; Inheritance ; Reciprocal translocation, balanced/unbalanced ; Maternal carrier
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wird von einer Familie berichtet, in der durch mütterliche balancierte Translokation t(5;10)(p15;p13) eine unbalancierte Chromosomenkonstitution bei zwei Kindern entstand. Mit Hilfe der G-Bandenanalyse wurde sie als Trisomie des distalen Abschnitts des kurzen Armes von Chromosom 10 (p13→pter) identifiziert. Der Vergleich mit 15 Literaturberichten von Trisomie 10p bestätigt das Vorliegen eines charakteristischen Dysmorphiesyndroms.
    Notes: Abstract This is the report of a family in which a balanced translocation in the mother t(5;10)(p15;p13) led to an unbalanced chromosomal constitution in two children. It was identified by G-banding analysis as trisomy of the distal portion of the short arm of chromosome 10 (p13→pter). Comparison with 15 previous reports of trisomy 10p confirms the existence of a characteristic dysmorphic syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442193
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    New chromosomal dysmorphic syndromes (1981)
    Springer
    European journal of pediatrics 136 (1981), S. 249-262 
    Details
    ISSN: 1432-1076
    Keywords: Trisomy ; Autosomal/partial/chromosome no. 12 ; Short arm (p)-inherited ; Familial translocation ; Balanced/unbalanced ; Dysmorphic syndrome ; Malformation syndrome ; Retardation syndrome ; Segregation pattern ; Risk figures ; Genetic counselling
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This is the report of two independent families in which a balanced maternal translocation led to trisomy 12p in one of each their offspring. Evaluation of 21 further case reports indicates that this is a phenotypically well defined syndrome which leads to severe developmental retardation. It can be recognized by a characteristic combination of craniofacial anomalies which are summarized in a phantom picture. The gene sequences which produce the typical features in the trisomic state must be localized distally to band 12p 12, which is the breakpoint in the partial trisomies. The specific craniofacial anomalies are not visibly modified by the length of the trisomic segment or additional small monosomies or trisomies of recipient chromosomes. However, the frequency and severity of organ malformations and the resulting probability of survival seem to decrease with increasing degrees of chromosomal imbalance. A cytogenetic classification of the 21 inherited translocations and a segregation analysis from the pedigree data was performed. For the different types of translocations the calculated risk figures are given.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442992
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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