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  • 1
    Electronic Resource
    Electronic Resource
    Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 491-498 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Molecular genetic analysis of the transmission of mutations in 73 families with fragile X (one of the largest samples evaluated so far) has confirmed previous hypotheses that the fragile X syndrome results from two consecutive mutational steps, designated “premutation” and “full fragile X mutation”. These mutations give rise to expansions of restriction fragments, most probably by amplification of the FMR-1 CGG repeat. Premutations are identified by small expansions that apparently have no effect on either the clinical or the cellular phenotype. Full mutations are reflected by large expansions and hypermethylation of the expanded gene region. All males showing large expansions were affected. Individuals with full mutations also expressed the fragile X, with only one exception. An affected “mosaic” male, showing a predominance of premutated fragments in his leukocytes, was shown to be fragile-X-negative on different occasions. About 50% of heterozygotes with full mutations were reported by clinicians to be mentally retarded. Conversion of the premutation to the full mutation may occur at oogenesis, as previously suggested, or after formation of a zygote at an early transitional stage in development when the CGG repeat behaves as a mitotically unstable element on maternally derived/imprinted X chromosomes carrying a premutation of sufficient repeat length.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00216457
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  • 2
    Electronic Resource
    Electronic Resource
    The Weaver syndrome in a girl (1983)
    Springer
    European journal of pediatrics 141 (1983), S. 58-59 
    Details
    ISSN: 1432-1076
    Keywords: Weaver syndrome ; Gigantism ; Macrocephaly ; Accelerated bone maturation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This paper reports the first female case of the Weaver syndrome. The prominent clinical features are gigantism, macrocephaly, and the characteristic facial dysmorphism. Hypertonia and bone maturation acceleration are somewhat less pronounced than in the formerly published cases of male patients. The etiology of the syndrome remains unclear, but if genetic, X-linked recessive inheritance can be excluded.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00445673
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  • 3
    Electronic Resource
    Electronic Resource
    The velo-cardio-facial (Shprintzen) syndrome (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 539-544 
    Details
    ISSN: 1432-1076
    Keywords: Multiple congenital anomalies/mental retardation (MCA/MR) syndrome ; Velo-cardio-facial syndrome ; Shprintzen syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Eight patients (three sporadic, five from two families) with the velo-cardio-facial syndrome (VCFS) or Shprintzen syndrome are reported. Major clinical findings of this syndrome include a characteristic pattern of facial dysmorphisms, cleft palate, cardio-vascular malformations, and (mostly mild-to-moderate) mental retardation or learning difficulties. The syndrome probably is caused by a dominant gene with very variable expression. From previous reports mostly ascertained from cardio-vascular or cleft palate clinics, the incidence of cleft palate and heart defects was calculated to be 98% and 82%, respectively. Out of eight patients of this study who were diagnosed mainly through their pattern of facial dysmorphisms, only two and four had clefts and heart defects, respectively, further demonstrating the variability in the expression of this gene. Similarly, mental retardation, noted in 100% of previous publications, was not present in all of our patients. In two instances, examination of the mother revealed that she probably carried the mutant gene, but that she showed a milder clinical experession than the index patient. It is suggested that careful family investigations should be performed following detection of an index patient, and that the rate of fresh mutations might be not as high as previously assumed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02429059
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  • 4
    Electronic Resource
    Electronic Resource
    Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome (1991)
    Springer
    European journal of pediatrics 150 (1991), S. 627-629 
    Details
    ISSN: 1432-1076
    Keywords: Alopecia ; Contiguous gene syndrome ; Ichthyosis ; Photophobia ; X-linked recessive inheritance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe an 18-month-old male infant suffering from the ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome and further delineate the clinical phenotype. Severe retardation of growth and psychomotor development, chill-like seizures, bronchial asthma, urticaria, a proneness to skin infections and transient nail dystrophy observed in our patient are nonobligatory manifestations of this disorder. Histological examination of the atrichia revealed poorly developed, shortened hair follicles and a complete absence of sebaceous glands. The sex ratio of published cases suggests an X-linked recessive inheritance. The marked clinical variability of the IFAP syndrome might be the expression of a contiguous gene defect.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02072621
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  • 5
    Electronic Resource
    Electronic Resource
    The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients (1994)
    Springer
    European journal of pediatrics 153 (1994), S. 438-445 
    Details
    ISSN: 1432-1076
    Keywords: Key words     Kabuki syndrome ; Niikawa-Kuroki syndrome ; Long palpebral fissures ; Fetal fingertip pads ; Kabuki make-up syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract      The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. [19] and Kuroki et al. [15] in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is characterized by a distinct face, mild to moderate mental retardation, postnatal growth retardation, dermatoglyphic and skeletal abnormalities. In Japan, the syndrome appears to have an incidence of about 1:32 000 newborns. Outside of Japan, a growing number of patients have been recognized. Clinical data are presented on 29 Caucasian patients; the patients were diagnosed over a relatively short period of time, indicating that the incidence outside of Japan is probably not lower than in Japan. A literature review of 89 patients (60 Japanese and 29 non-Japanese) is given. In 66% of the non-Japanese patients serious neurological problems were present, most notably hypotonia and feeding problems (which were not only related to the cleft palate); this was not reported in the Japanese patients. Inheritance is not clear. Most patients are isolated, sex-ratio is equal. The syndrome can be recognized in patients with cleft (lip/)palate, with mild to moderate developmental delay and in young children with hypotonia and/or feeding problems. In counselling parents, the designation "Kabuki" syndrome seems to be more appropriate than "Kabuki make-up" syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01983409
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  • 6
    Electronic Resource
    Electronic Resource
    The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients (1994)
    Springer
    European journal of pediatrics 153 (1994), S. 438-445 
    Details
    ISSN: 1432-1076
    Keywords: Kabuki syndrome Niikawa-Kuroki syndrome ; Long palpebral fissures ; Fetal fingertip pads ; Kabuki make-up syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. [19] and Kuroki et al. [15] in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is characterized by a distinct face, mild to moderate mental retardation, postnatal growth retardation, dermatoglyphic and skeletal abnormalities. In Japan, the syndrome appears to have an incidence of about 1∶32 000 newborns. Outside of Japan, a growing number of patients have been recognized. Clinical data are presented on 29 Caucasian patients; the patients were diagnosed over a relatively short period of time, indicating that the incidence outside of Japan is probably not lower than in Japan. A literature review of 89 patients (60 Japanese and 29 non-Japanese) is given. In 66% of the non-Japanese patients serious neurological problems were present, most notably hypotonia and feeding problems (which were not only related to the cleft palate); this was not reported in the Japanese patients. Inheritance is not clear. Most patients are isolated, sex-ratio is equal. The syndrome can be recognized in patients with cleft (lip/)palate, with mild to moderate developmental delay and in young children with hypotonia and/or feeding problems. In counselling parents, the designation “Kabuki” syndrome seems to be more appropriate than “Kabuki make-up” syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01983409
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  • 7
    Electronic Resource
    Electronic Resource
    Assignment of an autosomal sex reversa– locus ( SRA1 ) and campomelic dysplasia ( CMPD1 ) to 17q24.3–q25.1 (1993)
    [s.l.] : Nature Publishing Group
    Nature genetics 4 (1993), S. 170-174 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] We have mapped the autosomal sex reversal locus, SRA1, associated with campomelic dysplasia (CMPD1) to 17q24.3–q25.1 by three independent apparently balanced de novo reciprocal translocations. Chromosome painting indicates that the translocated segment of 17q involves about 15% of chromosome ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0693-170
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  • 8
    Electronic Resource
    Electronic Resource
    Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8 (1999)
    Springer
    Human genetics 〈Berlin〉 105 (1999), S. 619-628 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. The tricho-rhino-phalangeal syndrome type II (TRPS II, or Langer-Giedion syndrome) is an example of contiguous gene syndromes, as it comprises the clinical features of two autosomal dominant diseases, TRPS I and a form of multiple cartilaginous exostoses caused by mutations in the EXT1 gene. We have constructed a contig of cosmid, λ-phage, PAC, and YAC clones, which covers the entire TRPS I critical region. Using these clones we identified a novel submicroscopic deletion in a TRPS I patient and refined the proximal border of the minimal TRPS1 gene region by precisely mapping the inversion breakpoint of another patient. As a first step towards a complete inventory of genes in the Langer-Giedion syndrome chromosome region (LGCR) with the ultimate aim to identify the TRPS1 gene, we analyzed 23 human expressed sequence tags (ESTs) and four genes (EIF3S3, RAD21, OPG, CXIV) which had been assigned to human 8q24.1. Our analyses indicate that the LGCR is gene-poor, because none of the ESTs and genes map to the minimal TRPS1 gene region and only two of these genes, RAD21 and EIF3S3, are located within the shortest region of deletion overlap of TRPS II patients. Two genes, OPG and CXIV, which are deleted only in some patients with TRPS II may contribute to the clinical variability of this syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004399900176
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