Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment.
作者:
主题词
青少年(Adolescent);成年人(Adult);身高(Body Height);体重(Body Weight);儿童(Child);儿童, 学龄前(Child, Preschool);染色体畸变(Chromosome Aberrations);染色体缺失(Chromosome Deletion);染色体, 人, 13-15(Chromosomes, Human, 13-15);染色体, 人, 16-18(Chromosomes, Human, 16-18);染色体, 人, 19-20(Chromosomes, Human, 19-20);染色体, 人, 6-12和X(Chromosomes, Human, 6-12 and X);近亲(Consanguinity);女(雌)性(Female);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);核型分析(Karyotyping);男(雄)性(Male);Prader-Willi综合征(Prader-Willi Syndrome);易位, 遗传(Translocation, Genetic)
DOI
10.1007/BF00292373
PMID
6618490
发布时间
2019-07-22
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Human genetics
388-94页
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