一种通过R显带技术而非G显带和Q显带技术鉴定出的不平衡4q-21q易位。 - Suppr

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超能文献

An unbalanced 4q-21q translocation identified by the R but not by the G and Q chromosome banding techniques.

作者信息

Dutrillaux B, Jonasson J, Laurèn K, Lejeune J, Lindsten J, Petersen G B, Saldaña-Garcia P

出版信息

Ann Genet. 1973 Mar;16(1):11-6.

PMID:4124663

Abstract

摘要

相似文献

An unbalanced 4q-21q translocation identified by the R but not by the G and Q chromosome banding techniques.一种通过R显带技术而非G显带和Q显带技术鉴定出的不平衡4q-21q易位。

Ann Genet. 1973 Mar;16(1):11-6.

Familial t (4;21)(q2.4;q2.2) leading to unbalanced offspring with partial duplication of 4q and of 21q without manifestations of the Down syndrome.家族性t(4;21)(q2.4;q2.2)导致后代染色体不平衡，4号染色体长臂(q2.4)和21号染色体长臂(q2.2)部分重复，无唐氏综合征表现。

Am J Med Genet. 1984 Aug;18(4):725-9. doi: 10.1002/ajmg.1320180419.

[Familial translocation t(4;22) (p11;p12) and trisomy 4p in 2 sisters].[两姐妹中的家族性4号与22号染色体易位t(4;22)(p11;p12)及4号染色体短臂三体]

Ann Genet. 1974 Jun;17(2):119-24.

Presumably balanced translocations involving the same band of chromosome No. 4 found in two mentally retarded, dysmorphic individuals.在两名智力发育迟缓、有畸形特征的个体中发现了涉及4号染色体同一带的可能平衡易位。

Ann Genet. 1974 Dec;17(4):243-9.

[Autosomal chromosome aberrations].[常染色体畸变]

Bord Med. 1971 May;4(5):1373-416.

[A case of translocation t(Cp-; Bp+)].[一例易位t（Cp-；Bp+）]

Ann Genet. 1967 Jun;10(2):82-5.

[Translocation 46,XX, t(15; 21) (q13; q22,1) in the mother of 2 children with partial trisomy 15 and monosomy 21].

Ann Genet. 1973 Dec;16(4):271-5.

Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause.200例病因不明的智力发育迟缓及多发先天性异常患儿的细胞遗传学研究结果

Am J Med Genet. 1982 Jun;12(2):155-73. doi: 10.1002/ajmg.1320120206.

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.

Elucidation of the cytogenetic abnormality in a 4p- "phenocopy".4p-“拟表型”细胞遗传学异常的阐释。

Birth Defects Orig Artic Ser. 1982;18(3B):275-86.

引用本文的文献

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.

21 monosomy in a retarded female infant.一名智力发育迟缓女婴的21号染色体单体性。

J Med Genet. 1974 Dec;11(4):386-9. doi: 10.1136/jmg.11.4.386.

Monosomy for the centromeric and juxtacentromeric region of chromosome 21.

Humangenetik. 1974;24(3):191-5. doi: 10.1007/BF00283583.

Monosomy 21: a new case confirmed by in situ hybridization.21号染色体单体：通过原位杂交确诊的一例新病例。

Hum Genet. 1987 Jan;75(1):95-6. doi: 10.1007/BF00273852.

A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.一名具有威廉姆斯综合征表型特征的婴儿，其4号染色体长臂存在末端缺失[46,XX,del(4)(q33)] 。

J Med Genet. 1986 Oct;23(5):474-7. doi: 10.1136/jmg.23.5.474.

Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.一名先前被诊断为21号染色体单体的患者中新生t(5p;21q)的分子和细胞遗传学特征

Am J Hum Genet. 1988 Oct;43(4):511-9.

Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.21号染色体上导致唐氏综合征表型特征的一个区域的分子定义。

Am J Hum Genet. 1990 Aug;47(2):236-46.

Necropsy findings in a fetus with a 46,XY,dic t(X;21)(p11.1;p11.1).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.

A male infant with monosomy 21.一名患有21号染色体单体型的男婴。

Humangenetik. 1975 Aug 29;29(1):1-7. doi: 10.1007/BF00273344.

Partial trisomy 9q: a new syndrome.9号染色体长臂部分三体综合征：一种新的综合征。

Humangenetik. 1975 Sep 23;29(3):233-41. doi: 10.1007/BF00297629.

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