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  • 1
    Electronic Resource
    Electronic Resource
    The smith-lemli-opitz syndrome (1984)
    Springer
    Virchows Archiv 404 (1984), S. 413-425 
    Details
    ISSN: 1432-2307
    Keywords: The Smith-Lemli-Opitz syndrome ; Polydactyly ; Autopsy ; diagnosis ; Congenital malformations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary An analysis of 33 autopsied cases with the Smith-Lemli-Opitz syndrome (including 8 cases from our practice) is presented. Polydactyly in dead SLOS children was found in 51% (17/33) of cases and occurred significantly more often in this group than in the whole group of SLOS (20–22%). Certain morphological differences in the type of renal, cerebral, pulmonary and pancreatic anomalies indicate the existence of two phenotypically similar SLOS: 1) with polydactyly; 2) without it. The presented data initiate SLOS heterogeneity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00695225
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  • 2
    Electronic Resource
    Electronic Resource
    The malformations of the urinary system in autosomal disorders (1975)
    Springer
    Virchows Archiv 368 (1975), S. 167-178 
    Details
    ISSN: 1432-2307
    Keywords: Chromosomal abnormalities ; Kidney, ureter, urethra malformations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Data from the world literature about the pathology of the urinary system in autosomal chromosomal disorders are analyzed and compared with our own morphological investigations of this system in 63 cases of chromosomal disorders (Patau's, Edwards', Down's, Orbeli's, Wolf-Hirschhorn's syndromes, partial trisomy B and inversion of chromosome 2). The urinary system is most frequently involved in “cat-eye”, triploidy, Orbeli's, Patau's and Edwards' syndromes. All known malformations of the urinary system are observed in children with chromosomal diseases, except infantile polycystic kidney and medullary “sponge” kidney. The authors recognize specific and nonspecific abnormalities of the urinary system. Nonspecific abnormalities, as simple renal dysgenesis, may be observed in all chromosomal disorders. Specific abnormalities are found only in certain chromosomal diseases. These malformations are an excess of embryonal lobulation of the kidney with the increase of its weight and cystic changes (Patau's syndrome), crossed renal ectopy with fusion and horseshoe kidney (Edwards' syndrome), unilateral renal agenesis (Orbeli's syndrome), hypospadia (Wolf-Hirschhorn's syndrome). A possible pathogenesis of malformations of the urinary system in chromosomal disorders is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00432416
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  • 3
    Electronic Resource
    Electronic Resource
    The syndrome associated with the partial D-monosomy (1971)
    Springer
    Human genetics 〈Berlin〉 13 (1971), S. 296-308 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Ein Mädchen mit multiplen Mißbildungen und dem Mosaik 46,XX,Dq-/46,XX wird beschrieben. Bie dieser Gelegenheit werden die wesentlichen Daten über den Phänotyp anderer Fälle mit partieller D-Monosomie aus der Literatur zusammengefßt. Trotz der Variabilität des klinischen Bildes ist es möglich, wenigstens ein ausgeprägtes Monosomie D-Syndrom abzugrenzen. Die Vollständigkeit des klinischen Bildes und der Symptome variiert von Fall zu Fall. Die typischsten, wenn auch inkonstanten Symptome sind die folgenden: Fehlen des Daumens und des Os metacarpale 1; Verschmelzung des 4. und 5. Metacarpale; Schädel-Hirn-Defekte vom Arrhinencephalie-Trigonocephalie-Typ; Kolobome; Analatresie. In mehreren Fällen kommt auch ein Retinoblastom vor. Wahrscheinlich ist das betreffende Chromosome D1 (13).
    Notes: Summary A female child with multiple malformations and 46,XX,Dq-/46,XX chromosomal mosaicism is described. The main data concerning the phenotypes of other partial D-monosomics mentioned in the literature are reviewed. Despite the variability of clinical picture in these patients it is possible to delineate at least one distnct syndrome associated with partial monosomy D. The completeness of clinical picture as well as of the symptoms vary from case to case. The most typical while non constant somatic symptoms of this syndrome are: absence of the thumb and of the 1st metacarpal bone combined with the fusion of the 4th and 5th metacarpal bones; skull/brain defects of the arrhinencephaly/trigonocephaly type; colobomata; anal atresia. Sometimes retinoblastoma occurs. It is likely that the chromosome involved in this syndrome is D1(13) chromosome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273945
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  • 4
    Electronic Resource
    Electronic Resource
    Partial monosomies 18 (1972)
    Springer
    Human genetics 〈Berlin〉 15 (1972), S. 203-222 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Diese Arbeit gibt eine Übersicht über klinische Daten und Chromosomenbefunde bei ungefähr 170 Patienten mit partieller Trisomie (18p-; 18q-; 18r). Fälle mit dem Karyotyp (18q-) zeigen das charakteristischste Mißbildungs-Syndrom. Die Symptome von (18r)-Patienten nehmen eine Mittelstellung zwischen solchen mit 18p- und 18q- ein.
    Notes: Summary This paper contains a survey of clinical and chromosome data of about 170 patients with partial monosomies 18 (18p-; 18q-; 18r). Cases with karyotype (18q-) show a very distinct malformation syndrome. The symptoms of (18r) cases are in-between those of (18p-) and (18q-).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00702354
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  • 5
    Electronic Resource
    Electronic Resource
    Partial trisomy 11q as the result of sporadic translocation (1979)
    Springer
    Human genetics 〈Berlin〉 51 (1979), S. 63-66 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Partial trisomy 11q due to a sporadic translocation was found in a mentally retarded girl with multiple abnormalities. The proportion of sporadic translocations involved in the total incidence of partial trisomies is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278293
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  • 6
    Electronic Resource
    Electronic Resource
    Partial trisomy 10p in two generations (1978)
    Springer
    Human genetics 〈Berlin〉 41 (1978), S. 235-241 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Two cases of partial 10p trisomy due to a t(10;20)(p12;p12) in two generations of a family are presented. Analysis of 20 known cases of such aberrations confirmed the opinion of Schleiermacher et al. (1974) that partial trisomy 10p is a distinct clinically recognizable entity. The most important diagnostic features of this syndrome are dolichocephaly, prominent forehead, wide open sutures and fontanelles, broad root of the nose, cleft lip and palate, clubfoot, and cystic changes in kidneys.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273107
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  • 7
    Electronic Resource
    Electronic Resource
    Genetics of the +p9 syndrome (1976)
    Springer
    Human genetics 〈Berlin〉 32 (1976), S. 23-33 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary An analysis of data about the+p9 syndrome revealed that this clinical entity may occur in some different genetic forms. The recurrence risk in cases with familial translocations is due to the type of meiotic segregation, 2:2 or 3:1. It was shown a nonrandomness of involvement of chromosomes 15 and 22 in translocations with chromosome number 9.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00569973
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  • 8
    Electronic Resource
    Electronic Resource
    Down's syndrome with 45 chromosomes (1979)
    Springer
    Human genetics 〈Berlin〉 46 (1979), S. 121-123 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278911
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  • 9
    Electronic Resource
    Electronic Resource
    Trisomy 8p due to the 3:1 segregation of the balanced translocation t(8;15)mat (1979)
    Springer
    Human genetics 〈Berlin〉 46 (1979), S. 335-339 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary An additional small G-like chromosome was found in a newborn female with multiple abnormalities and hemorrhagic diathesis. G banding showed that the index patient was trisomic for the short arm of chromosome 8 and revealed the anomaly t(8;15)(q12;q11) in her mother. The relationship between chromosome 8 and multiple hemorrhages is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273318
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  • 10
    Electronic Resource
    Electronic Resource
    Spondylo-metaphyseal dysplasia: report of two cases of common type and delineation of a new variety with rectangular vertebral bodies (1993)
    Springer
    European radiology 3 (1993), S. 474-478 
    Details
    ISSN: 1432-1084
    Keywords: Spondylo-metaphyseal dysplasia ; platyspondyly
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Spondylo-metaphyseal dysplasia is a group of bone dysplasia characterised by spinal and metaphyseal involvement. Two patients with common type and two with a “new” variety of spondylo-metaphyseal dysplasia are reported. The latter is characterised by rectangular shape of the vertebral bodies and small carpal/tsrsal ossification centres without severe bone age retardation which characterists the common type. We propose to call it spondylo-metaphyseal dysplasia common type II.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00221428
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