2q三体
Trisomy 2q.
作者信息
Dallapiccola B, Forabosco A, Calabro A
出版信息
Acta Genet Med Gemellol (Roma). 1975;24(3-4):307-10. doi: 10.1017/s0001566000010424.
PMID:1235936
Abstract
Two unrelated patients with trisomy 2q32 leads to q37, resulting from maternal balanced translocations t(2; 13) (q32 q33) and t(2; 15) (q32 q26) are reported. Conparison of the clinical findings suggests that trisomy 2q is associated with a rather characteristic constellation of symptoms and malformations.
摘要
报告了两名无关患者，其2号染色体q32至q37三体综合征分别由母亲的平衡易位t(2; 13)(q32 q33)和t(2; 15)(q32 q26)引起。临床发现的比较表明，2号染色体q三体与一组相当典型的症状和畸形有关。
Zotero 插件