1q远端部分三体综合征。一种成年期独特的临床畸形综合征。
Partial distal 1q trisomy. A distinct clinical dysmorphic syndrome in adulthood.
作者信息
Fryns J P, de Muelenaere A, Pedersen J, Van Den Berghe H
出版信息
Ann Genet. 1980;23(3):181-2.
PMID:6968537
Abstract
Partial distal 1q trisomy (1q32 leads to 1qter) is reported in a 19 year-old deeply mentally handicapped girl. The dysmorphic stigmata in this patient are strikingly similar to those found in the two previously reported adult individuals, which were trisomic for the same segment of 1q.
摘要
据报道，一名19岁的重度智力障碍女孩存在部分1号染色体长臂末端三体性（1q32至1q末端）。该患者的畸形特征与之前报道的两名成年个体极为相似，这两名成年个体在1号染色体长臂的同一区段存在三体性。
相似文献
1
Partial distal 1q trisomy. A distinct clinical dysmorphic syndrome in adulthood.1q远端部分三体综合征。一种成年期独特的临床畸形综合征。
Ann Genet. 1980;23(3):181-2.
2
Partial trisomy 1q and monosomy 18q due to a de novo t(1;18)(q25;q23).由于新发t(1;18)(q25;q23)导致的1q部分三体和18q单体。
Ann Genet. 1983;26(2):120-2.
3
Partial trisomy 1q (1q32-->1qter) in adulthood: further delineation of the phenotype.成人1q部分三体（1q32→1q末端）：表型的进一步描述
Ann Genet. 1998;41(2):77-81.
4
De novo dir dup (1)(q3200----4200) in an adult. Further delineation of the pure 1q trisomy syndrome.
Ann Genet. 1989;32(2):97-101.
5
Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q.
Ann Genet. 1998;41(4):199-204.
6
[Partial trisomy for the long arm of chromosome 2 due to malsegregation of a maternal insertion : ins(6;2)(p22;q24q34)].
Ann Genet. 1977 Mar;20(1):52-5.
7
8
Partial duplication of the long arm of chromosome 4.4号染色体长臂部分重复。
Ann Genet. 1980;23(1):52-3.
9
Partial distal 12q trisomy.
Ann Genet. 1980;23(4):251-3.
10
Constitutional partial 1q trisomy mosaicism and Wilms tumor.体质性部分1q三体嵌合体与肾母细胞瘤
Cancer Genet Cytogenet. 2005 Oct 15;162(2):166-71. doi: 10.1016/j.cancergencyto.2005.05.012.
引用本文的文献
1
Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome.通过荧光原位杂交技术在一名患有多种畸形的男孩中检测到1q32-qter的新发重复：1q三体综合征的进一步描述
J Med Genet. 1997 Apr;34(4):309-13. doi: 10.1136/jmg.34.4.309.
2
Segregation and fertility analysis in an autosomal reciprocal translocation, t(1;8)(q41;q23.1).常染色体相互易位t(1;8)(q41;q23.1)的分离与育性分析
Am J Hum Genet. 1985 May;37(3):533-42.
3
Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome.两名患有1q部分三体性和6p单体性的非亲缘关系儿童，表现出拉森综合征的表型。
Hum Genet. 1991 Sep;87(5):587-91. doi: 10.1007/BF00209018.
Zotero 插件