Boy with an interstitial 1q (q31q41) duplication confirmed by fluorescent in situ hybridisation
Anna Sillén
Department of Clinical Genetics, Uppsala University Children's Hospital, Uppsala, Sweden
Search for more papers by this authorClaes Wadelius
Department of Clinical Genetics, Uppsala University Children's Hospital, Uppsala, Sweden
Search for more papers by this authorCorresponding Author
Göran Annerén
Department of Clinical Genetics, Uppsala University Children's Hospital, Uppsala, Sweden
Department of Pediatrics, Uppsala University Children's Hospital, Uppsala, Sweden
Clinical Genetics, Uppsala University Children's Hospital, S-751 85 Uppsala, SwedenSearch for more papers by this authorAnna Sillén
Department of Clinical Genetics, Uppsala University Children's Hospital, Uppsala, Sweden
Search for more papers by this authorClaes Wadelius
Department of Clinical Genetics, Uppsala University Children's Hospital, Uppsala, Sweden
Search for more papers by this authorCorresponding Author
Göran Annerén
Department of Clinical Genetics, Uppsala University Children's Hospital, Uppsala, Sweden
Department of Pediatrics, Uppsala University Children's Hospital, Uppsala, Sweden
Clinical Genetics, Uppsala University Children's Hospital, S-751 85 Uppsala, SwedenSearch for more papers by this authorAbstract
A 20-year-old man with multiple anomalies caused by a de novo duplication of the long arm of chromosome 1 is presented. The patient suffers from severe mental retardation, epilepsy, bronchial stenosis, and minor anomalies (e.g., hirsutism, midface dysplasia, and beaked nose). A G-banding analysis of the patient's chromosomes showed additional segments in chromosome 1. Fluorescent in situ hybridisation analysis with a chromosome 1 painting probe showed that the extra material originated from chromosome 1. Further analysis with cosmid probes demonstrated that the region involving chromosome bands 1q31 to q41 is present in a tandem duplication. Am. J. Med. Genet. 80:163–168, 1998. © 1998 Wiley-Liss, Inc.
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