Phenotypic Variability of a Terminal 7q Deletion/8q Duplication in Korean Siblings
نویسندگان
چکیده
Yoojin Kwun, M.D., Eul-Ju Seo, M.D., Han-Wook Yoo, M.D., Byong Sop Lee, M.D., Ki-Soo Kim, M.D., and Ellen Ai-Rhan Kim, M.D. Department of Pediatrics, Division of Neonatology, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine; Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine; Medical Genetics Center, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea
منابع مشابه
The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings
Trisomy 7q or 7q duplication has been described with specific craniofacial dysmorphic features and clinical manifestations, since the chromosomal abnormality was first described by Vogel et al. in 1973 1, 2) . But, trisomy 7p syndrome rarely originates de novo; it usually results from a parental balanced translocation, which alters the phenotype attributable to trisomy7q. Here we report on two ...
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