Deletion of the long arm of chromosome 6: two new patients and literature review |
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| Authors: | L. J. M. Evers C. T. R. M. Schrander-Stumpel J. J. M. Engelen T. M. Hoorntje C. F. M. Pulles-Heintzberger J. J. P. Schrander J. C. M. Albrechts J. Peters J. P. Fryns |
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| Affiliation: | Department of Molecular Cell Biology and Genetics;Department of Pediatrics, University of Limburg, Maastricht, The Netherlands;Department of Pediatrics, Maasland Hospital, Geleen, The Netherlands;Center for Human Genetics, University Hospital, Leuven, Belgium |
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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. |
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| Keywords: | cardiac defectyyy chromosome 6q interstitial deletion terminal deletion |
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