在一个发生2/9易位的家族中，2q31区域的重复导致了2q末端。
Duplication of region 2q31 leads to 2qter in a family with 2/9 translocation.
作者信息
Howard-Peebles P N, Goldsmith J P
出版信息
Hum Hered. 1980;30(2):84-8. doi: 10.1159/000153107.
PMID:7358400
Abstract
A balanced carrier mother with a t(2;9) (q31;p24) had a son with partial duplication of the long arm of chromosome 2(q31 leads to qter). A comparison of this child with other cases from the literature suggests that hypertelorism, a short nose, a broad nasal bridge, low-set ears, micrognathia, clinodactyly, a short neck and muscular hypotonia are characteristic phenotypic features of individuals having a duplication of 2q31 leads to qter.
摘要
一位携带t(2;9) (q31;p24)平衡易位的母亲生育了一个儿子，其2号染色体长臂（q31至qter）存在部分重复。将这个孩子与文献中其他病例进行比较表明，睑裂增宽、短鼻、鼻梁宽、耳低位、小颌、小指内弯、短颈和肌张力减退是2q31至qter重复个体的特征性表型特征。
相似文献
1
Duplication of region 2q31 leads to 2qter in a family with 2/9 translocation.在一个发生2/9易位的家族中，2q31区域的重复导致了2q末端。
Hum Hered. 1980;30(2):84-8. doi: 10.1159/000153107.
2
Phenotype of partial trisomy 8 (p21 leads to qter) in two unrelated patients with de novo translocation.两名新发易位的非亲缘关系患者中8号染色体部分三体（p21至qter）的表型
J Med Genet. 1981 Jun;18(3):204-8. doi: 10.1136/jmg.18.3.204.
3
4
Duplication 3q: severe manifestations in an infant with duplication of a short segment of 3q.3q重复：一名3q短片段重复婴儿的严重临床表现。
Am J Med Genet. 1981;10(2):187-92. doi: 10.1002/ajmg.1320100212.
5
Partial 3q trisomy due to an unbalanced 3/10 translocation.由于3/10不平衡易位导致的部分3号染色体三体
Am J Med Genet. 1980;7(3):335-9. doi: 10.1002/ajmg.1320070315.
6
Partial duplication of the long arm of chromosome 5: a case due to balanced paternal translocation and review of the literature.5号染色体长臂部分重复：一例由父源平衡性易位导致的病例及文献复习
Hum Genet. 1979 Sep 2;51(1):37-42. doi: 10.1007/BF00278289.
7
The 2p partial trisomy syndrome. Duplication of region 2p23 leads to 2pter in two members of a t(2;7) translocation kindred.2p部分三体综合征。2p23区域的重复导致一个t(2;7)易位家族的两名成员出现2p末端重复。
Am J Dis Child. 1976 Nov;130(11):1244-9. doi: 10.1001/archpedi.1976.02120120078014.
8
Duplication 6q24 leads to 6qter in an infant from a balanced paternal translocation.一名来自平衡型父系易位的婴儿出现6q24重复导致6q末端异常。
Am J Med Genet. 1983 Feb;14(2):347-51. doi: 10.1002/ajmg.1320140214.
9
[A new case of trisomy 5p].[一例新的5p三体病例]
Genetika. 1985 Dec;21(12):2066-70.
10
Duplication 11 (q21 to 23 leads to qter) syndrome.11号染色体重复（q21至23延伸至qter）综合征
Birth Defects Orig Artic Ser. 1977;13(3B):167-86.
引用本文的文献
1
Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations.由于一个inv ins(7;2)(q21.2;q3105q24.2)在四代人中分离，导致纯合的2q24.2----q3105单体和三体。
Hum Genet. 1984;68(1):77-86. doi: 10.1007/BF00293878.
2
Eleven new cases of del(9p) and features from 80 cases.11例9p缺失新病例及80例病例的特征。
J Med Genet. 1988 Nov;25(11):741-9. doi: 10.1136/jmg.25.11.741.
3
Abnormal chromosome complement resulting from a familial inversion of chromosome 2.由2号染色体家族性倒位导致的异常染色体组成。
J Med Genet. 1989 Nov;26(11):725-9. doi: 10.1136/jmg.26.11.725.
Zotero 插件