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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 67 (1984), S. 409-413 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Thirteen male newborns of a family spanning five generations revealed a syndrome consisting in elevated birth weight and length, a disproportionately large head with coarse, distinctive facies, short neck, slight obesity, and broad, short hands and feet. The affected who reached adulthood attained heights of about 2 m; their unusual facial and general appearance and the clumsiness of all their motions, remarkable during infancy and childhood, had become somewhat less conspicuous. In all but one affected individual, intellectual development was normal. In two index cases neither clinical nor laboratory evaluations revealed a basic defect. X-linked recessive inheritance is most probable.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 28 (1975), S. 217-220 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Eine Familie mit 2 autoptisch gesicherten Neuroblastomen, einem Ganglioneuroblastom und Hinweisen auf 3 weitere Neuroblastome wurde cytogenetisch untersucht. Anlaß war der von Sandberg et al. (1972) mitgeteilte Befund von double-minute-Chromosomen in Lymphocyten des peripheren Blutes bei einem Neuroblastom. Die Untersuchung sollte klären, ob in dieser “Neuroblastom-Familie” eine chromosomale Aberration als erbliche Vorschädigung die Entstehung von Sympathicustumoren begüngstigt. Es fanden sich keine konstanten Chromosomenanomalien, auch keine double-minute-Chromosomen.
    Notes: Summary A cytogenetic investigation was performed in a family which included 2 individuals with congential neuroblastomas of the suprarenal gland confirmed by autopsy and one with a ganglioneuroblastoma of the thoracic wall as well as 3 other individuals with tumors which probably were also neuroblastomas. The lymphocytes of the peripheral blood of 5 healthy relatives as well as of the child with the treated ganglioneuroblastoma failed to show a constant alteration of chromosomes. In this family, therefore, the suggestion could not be proofed that the very rate familial aggregation of neuroblastomas is caused by a hereditary chromosomal aberration.
    Type of Medium: Electronic Resource
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