Klaus Rager

Caritas Krankenhaus Bad Mergentheim, Bad Mergentheim, Baden-W├╝rttemberg, Germany

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Publications (1)1.89 Total impact

  • Sandra Anna Becker · Susanne Popp · Klaus Rager · Anna Jauch ·
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    ABSTRACT: Interstitial deletions of the long arm of chromosome 4 involving the region 4q25-q27 are rare. Clinical features of patients carrying such a deletion include craniofacial and skeletal anomalies, malformations of the eye, cardiac abnormalities, congenital hypotonia, and developmental retardation. Here we report a new case of a de novo interstitial deletion 4(q25q27) in a girl with congenital malformations and findings of Rieger syndrome. The abnormal chromosome 4 was characterised by G-banding and molecular cytogenetic methods including comparative genomic hybridisation and two-colour fluorescent in situ hybridisation with band-specific probes. CONCLUSION: this report highlights the importance of high quality banding and fluorescent in situ hybridisation analyses to screen for subtle chromosome 4q25-q27 aberrations in patients with clinical features of Rieger syndrome.
    European Journal of Pediatrics 05/2003; 162(4):267-70. DOI:10.1007/s00431-003-1161-7 · 1.89 Impact Factor

Publication Stats

10 Citations
1.89 Total Impact Points


  • 2003
    • Caritas Krankenhaus Bad Mergentheim
      Bad Mergentheim, Baden-W├╝rttemberg, Germany