Psychosocial and sexual functioning in women with Turner syndrome |
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Authors: | Karen Pavlidis Elizabeth McCauley Virginia P Sybert |
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Institution: | Department of Clinical Genetics, University Hospital, Uppsala;Department of Pediatrics, University Hospital, Uppsala;Department of Pediatrics, St Görans Hospital, Karolinska Institute, Stockholm, Sweden |
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Abstract: | Noonan syndrome, multiple lentigines syndrome (LEOPARD syndrome), Watson syndrome and neurofibromatosis type 1 share certain clinical manifestations. We present a linkage analysis using microsatellite markers located in the neurofibromatosis type 1 region at 17q11 in a family with Noonan syndrome and café-au-lait spots and in another family with multiple lentigines syndrome. No linkage of the disease to the neurofibromatosis type 1 locus was found in the families investigated. On the basis of our results, we suggest that neither familial multiple lentigines syndrome nor Noonan syndrome is caused by a defect in the neurofibromatosis type 1 gene. |
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Keywords: | linkage analysis multiple lentigines syndrome neurofibromatosis type 1 locus Noonan syndrome |
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