L J Evers

Publications (2)3.63 Total impact

• Article: Deletion of the long arm of chromosome 6: two new patients and literature review.

  L J Evers, C T Schrander-Stumpel, J J Engelen, T M Hoorntje, C F Pulles-Heintzberger, J J Schrander, J C Albrechts, J Peters, J P Fryns
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  ABSTRACT: Two children with a partial monosomy 6q are reported: a girl with an interstitial deletion [46,XX,del(6)(q16.2q23.1)], and a boy with a terminal deletion [46,XY,del(6)(q25.1)]. Both children presented with developmental delay, facial dysmorphism and a cardiac defect. The patients have been studied using G banding and cosmid probes specific for the long arm of chromosome 6. Clinical data are compared with patients reported in the literature.
  Clinical Genetics 10/1996; 50(3):138-44. · 3.13 Impact Factor
• Article: Terminal deletion of long arm of chromosome 4: patient report and literature review.

  L J Evers, C T Schrander-Stumpel, J J Engelen, H Mulder, M Borghgraef, J P Fryns
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  ABSTRACT: We report on a girl with a terminal deletion (46,XX,del(4)(q33-->ter). She presented with developmental delay and slight facial dysmorphism. The clinical features are compared with the patients in the literature and a review of the psychologic data is given.
  Genetic counseling (Geneva, Switzerland) 01/1993; 4(2):139-45. · 0.50 Impact Factor