Knoll J H, Wagstaff J, Lalande M
Genetics Division, Children's Hospital, Boston, Massachusetts.
Am J Med Genet. 1993 Apr 1;46(1):2-6. doi: 10.1002/ajmg.1320460103.
The majority of patients with Angelman syndrome and Prader-Willi syndrome have a cytogenetic and molecular deletion of chromosome 15q11q13 with the primary difference being in the parental origin of deletion. Our current understanding of the cytogenetics and molecular genetics of these 2 clinically distinct syndromes will be discussed in this review.
大多数天使综合征和普拉德-威利综合征患者存在15q11q13染色体的细胞遗传学和分子缺失,主要区别在于缺失的亲本来源。本文将讨论我们目前对这两种临床不同综合征的细胞遗传学和分子遗传学的理解。