一例伴有胎儿血红蛋白持续存在的多重染色体重排病例。 - Suppr

Suppr

超能文献

A case of multople chromosomal rearrangements with persistence of foetal haemoglobin.

作者信息

Nuzzo F, Marini A, Baglioni C, Ford C E, De Carli L, Piceni Sereni L

出版信息

Cytogenetics. 1968;7(3):169-82. doi: 10.1159/000129981.

DOI:10.1159/000129981

PMID:5682897

Abstract

摘要

相似文献

A case of multople chromosomal rearrangements with persistence of foetal haemoglobin.一例伴有胎儿血红蛋白持续存在的多重染色体重排病例。

Cytogenetics. 1968;7(3):169-82. doi: 10.1159/000129981.

Chromosomal abnormalities in a girl with physical and mental maldevelopment.

Hum Hered. 1970;20(3):252-9. doi: 10.1159/000152318.

Hereditary persistence of fetal haemoglobin (HPFH) in conjunction with a chromosomal translocation involving the haemoglobin beta locus.

Br J Haematol. 1984 Jan;56(1):87-94. doi: 10.1111/j.1365-2141.1984.tb01274.x.

Mosaicism with translocation: autoradiographic and fluorescent studies of an inherited reciprocal translocation t(2q+;14q-).伴有易位的嵌合体：对一例遗传性相互易位t(2q+;14q-)的放射自显影和荧光研究

J Med Genet. 1972 Sep;9(3):280-6. doi: 10.1136/jmg.9.3.280.

Autosomal translocation in a mentally retarded male child with 46,XY,t(2q-;13q+) complement. Case report and review.一名患有46,XY,t(2q-;13q+)核型的智力发育迟缓男童的常染色体易位。病例报告及文献复习。

J Med Genet. 1971 Dec;8(4):504-8. doi: 10.1136/jmg.8.4.504.

Banding identification of chromosomal abnormalities in four patients: ring (6), translocation (2q-;15q+), translocation (21q;21q) and deletion (22q-).4例患者染色体异常的带型分析：环形（6号染色体）、易位（2号染色体长臂缺失；15号染色体长臂增加）、易位（21号染色体与21号染色体之间）及缺失（22号染色体长臂缺失）

J Ment Defic Res. 1975 Jun;19(2):145-50. doi: 10.1111/j.1365-2788.1975.tb01267.x.

Presumptive C-15 translocation and familial large Y identified by autoradiography.通过放射自显影鉴定出推定的C-15易位和家族性大Y染色体。

J Med Genet. 1969 Mar;6(1):89-94. doi: 10.1136/jmg.6.1.89.

Placental chorangiomata and mental deficiency in a child with 2/15 translocation: 46,XX,t(2q-;15q+).一名患有2/15易位（核型为46,XX,t(2q-;15q+)）的儿童的胎盘绒毛膜血管瘤与智力缺陷

Cytogenetics. 1969;8(5):389-99. doi: 10.1159/000130048.

Comparative behavior of ring chromosomes.环状染色体的比较行为

Am J Hum Genet. 1970 May;22(3):304-18.

Trisomy of the short arm of chromosome 8: association with translocation between chromosomes 8 and 22 46,XY,22-,t(8p22q) plus.8号染色体短臂三体：与8号和22号染色体之间的易位相关，46，XY，22 - ，t(8p22q)加。

Clin Genet. 1973 Jun;4(6):507-16. doi: 10.1111/j.1399-0004.1973.tb01940.x.

引用本文的文献

Chromothripsis: an emerging crossroad from aberrant mitosis to therapeutic opportunities.染色体重排：从异常有丝分裂到治疗机会的新兴十字路口。

J Mol Cell Biol. 2024 Sep 30;16(4). doi: 10.1093/jmcb/mjae016.

On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update.染色体碎裂的机制复杂性与后果：最新进展

Front Genet. 2019 Apr 30;10:393. doi: 10.3389/fgene.2019.00393. eCollection 2019.

A complex rearrangement involving three autosomes in a phenotypically normal male presenting with sterility.一名表现为不育的表型正常男性中涉及三条常染色体的复杂重排。

J Med Genet. 1982 Oct;19(5):375-7. doi: 10.1136/jmg.19.5.375.

Familial translocation involving chromosomes 6, 14 and 20, identified by quinacrine fluorescence.通过喹吖因荧光鉴定的涉及6号、14号和20号染色体的家族性易位。

Humangenetik. 1971;13(3):205-9. doi: 10.1007/BF00326943.

Possible complex translocation t(9;14;13) (q12;pl?;Q31) in mother of a child with 9-p trisomy syndrome.9号染色体短臂三体综合征患儿母亲中可能存在复杂易位t(9;14;13) (q12;pl?;Q31) 。

Humangenetik. 1974;25(2):83-92. doi: 10.1007/BF00283308.

A familial reciprocal translocation between three chromosomes.三条染色体之间的家族性相互易位。

Humangenetik. 1974;24(4):303-8. doi: 10.1007/BF00297594.

Prenatal diagnosis and follow up of a child with a complex chromosome rearrangement.一名患有复杂染色体重排患儿的产前诊断及随访

J Med Genet. 1986 Apr;23(2):180-3. doi: 10.1136/jmg.23.2.180.

Partial trisomy 11,46,XX,-3,-20, + der3, + der20,t(3:11:20), resulting from a complex maternal rearrangement of chromosomes 3, 11, 20.11号染色体部分三体，46,XX,-3,-20,+der3,+der20,t(3;11;20)，源于母亲3号、11号和20号染色体的复杂重排。

Hum Genet. 1976 Feb 29;31(2):219-25. doi: 10.1007/BF00296149.

Partial trisomy 4 resulting from a complex maternal rearrangement of chromosomes 2, 4, and 18 with interstitial translocation.由于2号、4号和18号染色体复杂的母源性重排伴间质易位导致的4号染色体部分三体。

Hum Genet. 1979 Sep 2;51(1):55-61. doi: 10.1007/BF00278292.

[Neonatal polycythaemia and haemoglobin types in infants with G-trisomy (author's transl)].

Klin Wochenschr. 1975 Feb 1;53(3):111-6. doi: 10.1007/BF01466713.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验