由涉及母亲倒位inv(10)(p11q26)的重组产生的10号染色体短臂三体。
Trisomy 10p produced by recombination involving maternal inversion inv(10)(pllq26).
作者信息
Lansky-Shafer S C, Daniel W L, Ruiz L
出版信息
J Med Genet. 1981 Feb;18(1):59-61. doi: 10.1136/jmg.18.1.59.
Abstract
An infant with features of trisomy 10p syndrome was found to have an abnormal chromosome 10: 46, XY, rec(10), dup p, inv(10) (p11q26) mat. The infant's mother was heterozygous for a pericentric inversion involving chromosome 10 (46, XX, inv (10) (p11q26). The infant's derivative chromosome was apparently produced by meiotic recombination between the inversion chromosome and its normal homologue.
摘要
一名具有10号染色体短臂三体综合征特征的婴儿被发现有一条异常的10号染色体：46，XY，rec(10)，dup p，inv(10)(p11q26)mat。婴儿的母亲是涉及10号染色体的臂间倒位杂合子(46，XX，inv(10)(p11q26)。婴儿的衍生染色体显然是由倒位染色体与其正常同源染色体之间的减数分裂重组产生的。
相似文献
1
Trisomy 10p produced by recombination involving maternal inversion inv(10)(pllq26).由涉及母亲倒位inv(10)(p11q26)的重组产生的10号染色体短臂三体。
J Med Genet. 1981 Feb;18(1):59-61. doi: 10.1136/jmg.18.1.59.
2
Relatives with opposite chromosome constitutions, rec(10)dup(10p)inv(10)(p15.1q26.12) and rec(10)dup(10q)inv(10)(p15.1q26.12), due to a familial pericentric inversion.由于家族性臂间倒位，具有相反染色体组成的亲属，即rec(10)dup(10p)inv(10)(p15.1q26.12)和rec(10)dup(10q)inv(10)(p15.1q26.12) 。
Cytogenet Genome Res. 2014;144(2):109-13. doi: 10.1159/000368863. Epub 2014 Nov 15.
3
Prenatal diagnosis and molecular cytogenetic characterization of rec(10)dup(10p)inv(10)(p11.2q26.3) in a fetus associated with paternal pericentric inversion.与父亲臂间倒位相关的胎儿中rec(10)dup(10p)inv(10)(p11.2q26.3)的产前诊断及分子细胞遗传学特征分析
Taiwan J Obstet Gynecol. 2016 Oct;55(5):733-737. doi: 10.1016/j.tjog.2016.07.007.
4
A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion.因母亲着丝粒周围倒位导致的部分 14q31.3-qter 三体症的一个新病例。
Gene. 2013 Jul 10;523(2):192-4. doi: 10.1016/j.gene.2013.03.115. Epub 2013 Apr 6.
5
Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4.由于4号染色体臂间倒位不平衡导致的重组4综合征。
Am J Med Genet. 2002 Sep 15;112(1):103-6. doi: 10.1002/ajmg.10640.
6
Trisomy 10p syndrome owing to maternal pericentric inversion.由于母亲臂间倒位导致的10号染色体短臂三体综合征。
J Med Genet. 1990 Apr;27(4):264-6. doi: 10.1136/jmg.27.4.264.
7
Elucidation of a pericentric inversion of a D-group chromosome in the mother of a child with Patau's syndrome.一名患有帕陶氏综合征患儿的母亲中D组染色体臂间倒位的阐明。
Ann Hum Genet. 1975 Jan;38(3):305-7. doi: 10.1111/j.1469-1809.1975.tb00614.x.
8
A case of partial trisomy 20p resulting from meiotic recombination of a maternal pericentric inversion.一例部分 20p 三体综合征，源于母源着丝粒倒位的减数分裂重组。
Ann Lab Med. 2012 Jan;32(1):91-4. doi: 10.3343/alm.2012.32.1.91. Epub 2011 Dec 20.
9
A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36).一名患有重组7号染色体rec(7) dup p的畸形儿童，该染色体源自母亲的7号染色体臂间倒位inv(7)(p15q36)。
J Med Genet. 1991 Feb;28(2):126-7. doi: 10.1136/jmg.28.2.126.
引用本文的文献
1
Two chromosomal syndromes in the same family: monosomy and trisomy for part of the short arm of chromosome 10.同一家族中的两种染色体综合征：10号染色体短臂部分单体性和三体性。
Eur J Pediatr. 1982 Oct;139(2):153-7. doi: 10.1007/BF00441502.
2
Pericentric inversions. Problems and significance for clinical genetics.臂间倒位。临床遗传学中的问题及意义。
Hum Genet. 1984;68(1):1-47. doi: 10.1007/BF00293869.
3
Duplication of chromosome 10p: confirmation of regional assignments of platelet-type phosphofructokinase.10号染色体短臂重复：血小板型磷酸果糖激酶区域定位的确认
Am J Hum Genet. 1984 Jul;36(4):750-9.
4
A case of two inversion (10) recombinants in a family.一个家族中出现两个倒位（10）重组体的病例。
J Med Genet. 1989 Jul;26(7):461-4. doi: 10.1136/jmg.26.7.461.
本文引用的文献
1
[Pericentric inversion, inv(10), in a mother and aneusomy by recombination, inv(10), rec(10), in her son (author's transl)].[母亲存在臂间倒位inv(10)，其儿子因重组出现inv(10)、rec(10)导致的染色体数目异常（作者译）]
Cytogenet Cell Genet. 1973;12(4):245-53. doi: 10.1159/000130460.
2
Pericentric inversions of human chromosomes 9 and 10.人类9号和10号染色体的臂间倒位
Am J Hum Genet. 1974 Nov;26(6):746-66.
3
A rapid banding technique for human chromosomes.一种用于人类染色体的快速显带技术。
Lancet. 1971 Oct 30;2(7731):971-2. doi: 10.1016/s0140-6736(71)90287-x.
4
A large pericentric inversion of human chromosome 8.人类8号染色体的一个大型臂间倒位。
Am J Hum Genet. 1976 May;28(3):208-12.
5
A fetus with recombinant of chromosome 8 inherited from her carrier father.一名从其携带染色体8重组的父亲那里遗传了该染色体的胎儿。
Hum Genet. 1978 Feb 16;40(3):241-8. doi: 10.1007/BF00272184.
Zotero 插件