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3例新的21号染色体部分单体病例，分别由一条21号环状染色体和2次不平衡相互易位导致。

Three new cases of partial monosomy 21 resulting from one ring 21 chromosome and two unbalanced reciprocal translocations.

作者信息

Philip N, Baeteman M A, Mattei M G, Mattei J F

出版信息

Eur J Pediatr. 1984 Apr;142(1):61-4. doi: 10.1007/BF00442594.

DOI:10.1007/BF00442594
PMID:6714262
Abstract

Three patients with partial monosomy of the long arm of chromosome 21 are reported. Each one presents several features of a 21q--syndrome but in cases 2 and 3, other chromosomes are involved, contributing to the variability of the clinical picture. Synthesis of clinical, enzymatic and cytogenetic findings confirms that the superoxide dismutase A (SOD-A) locus is in sub-band 21q22-1. However, it is not possible to localize precisely the segments responsible for the different clinical features of 21q--syndrome.

摘要

本文报道了3例21号染色体长臂部分单体综合征患者。每例患者均呈现出一些21q-综合征的特征，但在病例2和病例3中，其他染色体也受累，这导致了临床表现的变异性。临床、酶学和细胞遗传学研究结果综合表明，超氧化物歧化酶A（SOD-A）基因座位于21q22-1亚带。然而，目前尚无法精确确定导致21q-综合征不同临床特征的片段位置。

相似文献

1
Three new cases of partial monosomy 21 resulting from one ring 21 chromosome and two unbalanced reciprocal translocations.3例新的21号染色体部分单体病例，分别由一条21号环状染色体和2次不平衡相互易位导致。
Eur J Pediatr. 1984 Apr;142(1):61-4. doi: 10.1007/BF00442594.
2
SOD-A and chromosome 21. Conflicting findings in a familial translocation (9p24;21q214).超氧化物歧化酶A与21号染色体。家族性易位（9p24；21q214）中的矛盾发现。
Hum Genet. 1981;57(2):220-3. doi: 10.1007/BF00282029.
3
Partial monosomy for a 21 chromosome. Report of a new case of r(21) and review of the literature.
Helv Paediatr Acta. 1983 Mar;38(1):73-80.
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A case of 21q-syndrome with half normal SOD-1 activity.一例超氧化物歧化酶-1（SOD-1）活性半正常的21号染色体长臂缺失综合征病例。
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5
No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21.21号染色体“镜像”重复中21q22.3远端单体性对唐氏综合征表型无显著影响。
Am J Hum Genet. 1992 Dec;51(6):1240-50.
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A case of partial monosomy 21q22.2 associated with Rieger's syndrome.一例与里格尔综合征相关的21q22.2部分单体综合征病例。
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[Phenotypic disorders in balanced reciprocal translocation: karyotype 46,XY,rcp(13; 21)(q22; q22)].平衡易位中的表型障碍：核型46，XY，rcp(13; 21)(q22; q22)
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[Partial trisomy (10pter leads to 10q21) and partial monosomy (21pter leads to 21q21) due to a reciprocal balanced familial translocation (10;21)(q21;q21) (author's transl)].由于家族性相互平衡易位（10；21）（q21；q21）导致的部分三体性（10号染色体短臂末端至10q21）和部分单体性（21号染色体短臂末端至21q21）（作者译）
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"Pure" monosomy 21 pter leads to q21 in a girl born to a couple 46,XX,t(14;21)(p12;q22) and 46,XY,t(5;18)(q32;q22).一名女孩出现“纯合性”21号染色体单体性，其染色体核型为pter至q21，该女孩的父母核型分别为46,XX,t(14;21)(p12;q22)和46,XY,t(5;18)(q32;q22)。
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Application of molecular and cytogenetic techniques to the detection of a de novo unbalanced t(11q;21q) in a patient previously diagnosed as having monosomy 21.
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引用本文的文献

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Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.与21号染色体部分单体相关的21个特征的分子图谱：淀粉样前体蛋白-超氧化物歧化酶1区域的累及情况
Am J Hum Genet. 1995 Jul;57(1):62-71.
2
Expression of LFA-1 by a lymphoblastoid cell line from a patient with monosomy 21: effects on intercellular adhesion.来自21号染色体单体患者的淋巴母细胞系中淋巴细胞功能相关抗原-1（LFA-1）的表达：对细胞间黏附的影响
Clin Exp Immunol. 1990 Sep;81(3):501-6. doi: 10.1111/j.1365-2249.1990.tb05363.x.
3
Necropsy findings in a fetus with a 46,XY,dic t(X;21)(p11.1;p11.1).

本文引用的文献

1
[PARTIAL MONOSOMY FOR A SMALL ACROCENTRIC CHROMOSOME].[小近端着丝粒染色体的部分单体性]
C R Hebd Seances Acad Sci. 1964 Nov 30;259:4187-90.
2
Analysis of banding patterns in a case of ring chromosome 21.21号环状染色体一例的带型分析
Am J Med Genet. 1981;10(4):323-31. doi: 10.1002/ajmg.1320100404.
3
A deletion in chromosome 22 can cause DiGeorge syndrome.22号染色体的缺失会导致迪乔治综合征。
一名核型为46,XY，dic t(X;21)(p11.1;p11.1)的胎儿的尸检结果
J Med Genet. 1992 Jul;29(7):503-6.
Hum Genet. 1981;57(3):253-6. doi: 10.1007/BF00278938.
4
Brief clinical report: an infant with duplication of 17q21 lead to 17qter.
Am J Med Genet. 1981;8(1):111-5. doi: 10.1002/ajmg.1320080113.
5
Partial trisomy 20.
Ann Genet. 1981;24(1):54-6.
6
Trisomy 21 for the region 21q223: identification by high-resolution R-banding patterns.21号染色体长臂22.3区三体：通过高分辨率R带模式进行鉴定。
Hum Genet. 1981;56(3):409-11. doi: 10.1007/BF00274703.
7
Partial trisomy and monosomy 21 in an infant with an unusual de novo 21/21 translocation.一名患有罕见新发21/21易位的婴儿出现21号染色体部分三体和部分单体。
Ann Genet. 1980;23(3):183-6.
8
Copper/zinc superoxide dismutase (SOD-1) activity in regular trisomy 21, trisomy 21 by translocation and mosaic trisomy 21.
Clin Genet. 1982 Oct;22(4):160-4. doi: 10.1111/j.1399-0004.1982.tb01429.x.
9
Down's syndrome phenotype and autosomal gene inactivation in a child with presumed (X;21) de novo translocation.一名推测存在（X；21）新生易位的儿童的唐氏综合征表型和常染色体基因失活
J Med Genet. 1982 Apr;19(2):144-8. doi: 10.1136/jmg.19.2.144.
10
Moderate Down's syndrome in three siblings having partial trisomy 21q22.2 to qter and therefore no SOD-1 excess.三名患有21q22.2至qter部分三体性且因此不存在超量超氧化物歧化酶-1的同胞患有中度唐氏综合征。
Hum Genet. 1982;60(1):74-7. doi: 10.1007/BF00281269.