Publications (2)3.63 Total impact
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Article: Deletion of the long arm of chromosome 6: two new patients and literature review.
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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.
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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
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Institutions
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1993–1996
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Maastricht University
- Genetica en Celbiologie
Maastricht, Provincie Limburg, Netherlands
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