由于母亲的t(1;6)易位导致的6号染色体短臂部分三体。
Partial trisomy 6p due to maternal t(1;6) translocation.
作者信息
Song M, Li L
机构信息
State Key Laboratory of Medical Genetics, Hunan Medical University, Changsha, P.R. China.
出版信息
Clin Genet. 1996 Jun;49(6):316-7. doi: 10.1111/j.1399-0004.1996.tb03797.x.
Abstract
Partial trisomy 6p with duplications ranging from 6p21 to 6p25 is emerging as an established syndrome. A case of duplication of segment p22-p25 of the short arm of chromosome 6 as the result of a maternal t (1;6)(q44;p22.2) translocation in a mentally retarded girl with congenital anomalies is reported here. The associated phenotypic anomalies are compared with other reported cases of duplication 6p involving adjacent regions.
摘要
6p部分三体伴6p21至6p25重复正逐渐成为一种公认的综合征。本文报道了一名患有先天性异常的智力发育迟缓女孩，因母亲发生t(1;6)(q44;p22.2)易位导致6号染色体短臂p22 - p25节段重复。将相关的表型异常与其他报道的涉及相邻区域的6p重复病例进行了比较。
相似文献
1
Partial trisomy 6p due to maternal t(1;6) translocation.由于母亲的t(1;6)易位导致的6号染色体短臂部分三体。
Clin Genet. 1996 Jun;49(6):316-7. doi: 10.1111/j.1399-0004.1996.tb03797.x.
2
Partial 6p trisomy associated with infantile autism.与婴儿自闭症相关的部分6号染色体短臂三体性
Clin Genet. 1988 May;33(5):356-9. doi: 10.1111/j.1399-0004.1988.tb03462.x.
3
A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation.一例儿童青光眼，由不平衡易位导致部分 6p25 单体性和部分 18p11 三体性联合所致。
Ophthalmic Genet. 2020 Apr;41(2):175-182. doi: 10.1080/13816810.2020.1744019. Epub 2020 Mar 30.
4
Partial trisomy of chromosome no. 1 in two adult brothers due to maternal translocation (1q--;6p+).由于母亲的染色体易位（1q--;6p+），两名成年兄弟出现1号染色体部分三体。
Hum Genet. 1978 Nov 16;44(3):277-85. doi: 10.1007/BF00394292.
5
Partial trisomy 6p: 46,XX, -10, der(10),t(6;10) (p22;q26)pat and HLA localisation.6号染色体短臂部分三体：46,XX, -10, 10号染色体衍生染色体，t(6;10) (p22;q26)父源及HLA定位
J Med Genet. 1981 Jun;18(3):231-4. doi: 10.1136/jmg.18.3.231.
6
Molecularly defined interstitial tandem duplication 6p case with mild manifestations.分子定义的6p间质性串联重复病例，表现轻微。
Am J Med Genet. 2001 Nov 1;103(4):320-5.
7
Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome.6p 亚端粒单体性和 12q 三体性患者，核型为 46,XX,der(6)t(6;12)(p25.3;q24.31)：与 Mutchinick 综合征表型重叠。
Am J Med Genet A. 2010 Jul;152A(7):1724-9. doi: 10.1002/ajmg.a.33383.
8
Familial partial trisomy 5p resulting from segregation of an insertional translocation.因插入性易位分离导致的家族性5p部分三体综合征。
Clin Genet. 1988 Jun;33(6):404-9. doi: 10.1111/j.1399-0004.1988.tb03472.x.
9
Partial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation.由母亲（6p；22q）易位的3:1减数分裂分离导致的6p部分三体和22部分三体。
J Med Genet. 1986 Apr;23(2):185-7. doi: 10.1136/jmg.23.2.185.
10
Pure 6p22-pter trisomic patient: refined FISH characterization and genotype-phenotype correlation.纯6p22 - pter三体患者：精细的荧光原位杂交特征分析及基因型 - 表型相关性研究
Am J Med Genet. 2002 Feb 15;108(1):36-40. doi: 10.1002/ajmg.10225.
Zotero 插件