一名无明显血液系统疾病的癫痫儿童存在环状F染色体嵌合体（46,XY,20r-46,XY）。 - Suppr

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超能文献

Ring F chromosome mosaicism (46,XY,20r-46,XY) in an epileptic child without apparent haematological disease.

作者信息

Faed M, Morton H G, Robertson J

出版信息

J Med Genet. 1972 Dec;9(4):470-3. doi: 10.1136/jmg.9.4.470.

DOI:10.1136/jmg.9.4.470

PMID:4646558

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1469060/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de61/1469060/308d849d4ca6/jmedgene00363-0089-a.jpg

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Ring F chromosome mosaicism (46,XY,20r-46,XY) in an epileptic child without apparent haematological disease.一名无明显血液系统疾病的癫痫儿童存在环状F染色体嵌合体（46,XY,20r-46,XY）。

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A ring-20 chromosome.一条20号环状染色体。

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Detection of paternal uniparental disomy 9 in a neonate with prenatally detected mosaicism for a small supernumerary marker chromosome 9 and a supernumerary ring chromosome 9.在一名产前检测出小额外标记染色体9和额外环状染色体9嵌合体的新生儿中检测到父源单亲二体9。

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引用本文的文献

Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes.20号环状染色体综合征：遗传学、临床特征及重叠表型

Front Neurol. 2020 Dec 8;11:613035. doi: 10.3389/fneur.2020.613035. eCollection 2020.

Epileptic syndromes: From clinic to genetic.癫痫综合征：从临床到基因

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Cognitive impairment and abnormal behaviour related to ring chromosome 20 aberration.与20号环状染色体畸变相关的认知障碍和异常行为。

J Autism Dev Disord. 2012 Jun;42(6):1146-8. doi: 10.1007/s10803-011-1346-2.

Trisomy for short arm of chromosome 20.20号染色体短臂三体

Humangenetik. 1974;23(3):219-22. doi: 10.1007/BF00285108.

Familial ring (20) chromosomal mosaicism.家族性环状（20）染色体嵌合体。

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Deletion of the short arms of chromosome 20.20号染色体短臂缺失。

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The r(20) syndrome.r(20)综合征

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Ring 20 chromosome in a child with seizures, minor anomalies, and retardation.一名患有癫痫、轻微异常和智力迟钝的儿童的20号环状染色体。

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本文引用的文献

A SMALL AUTOSOMAL RING CHROMOSOME IN A FEMALE INFANT WITH CONGENITAL MALFORMATIONS.一名患有先天性畸形的女婴的一条小常染色体环状染色体

Ann Hum Genet. 1963 Nov;27:189-95. doi: 10.1111/j.1469-1809.1963.tb00212.x.

Unusual chromosomal findings in a case of myelofibrosis.骨髓纤维化病例中的异常染色体发现。

J Hered. 1968 Nov-Dec;59(6):348-50. doi: 10.1093/oxfordjournals.jhered.a107742.

Further observations on patients with a chromosomal abnormality associated with polycythaemia vera.

Br J Haematol. 1968 Apr;14(4):363-74. doi: 10.1111/j.1365-2141.1968.tb06988.x.

Analysis of human metaphase chromosome set by aid of DNA-binding fluorescent agents.借助DNA结合荧光剂对人类中期染色体组进行分析。

Exp Cell Res. 1970 Oct;62(2):490-2. doi: 10.1016/0014-4827(70)90586-0.

Chromosome abnormalities in two cases with bilateral radial element defects.两例双侧桡骨元素缺陷患者的染色体异常

J Med Genet. 1969 Sep;6(3):342-6. doi: 10.1136/jmg.6.3.342.

Identity of the abnormal F-group chromosome associated with polycythaemia vera.与真性红细胞增多症相关的异常F组染色体的鉴定。

Humangenetik. 1972;14(2):159-61. doi: 10.1007/BF00273302.

[Multiple congenital malformations in a boy with a chromosome abnormality of the group F (46-XY, 20-P), the son of a clinically healthy subject with an analogous chromosome malformation].[一名患有F组染色体异常（46-XY，20-P）男孩的多种先天性畸形，其父亲为临床健康但有类似染色体畸形的个体]

Minerva Pediatr. 1970 May 26;22(21):1084-8.

Partial deletion of a group-F (19-20) chromosome in a physically handicapped psychiatric male patient.一名身体残疾的男性精神病患者的F组（19 - 20）染色体部分缺失。

J Med Genet. 1971 Sep;8(3):374-7. doi: 10.1136/jmg.8.3.374.

[Chromosome analyses in idiopathic acquired sideroblastic anemia. A study of 6 cases].[特发性获得性铁粒幼细胞贫血的染色体分析。6例研究]

Nouv Rev Fr Hematol. 1966 May-Jun;6(3):367-87.

Chromosomal aberrations in acute leukemia.急性白血病中的染色体畸变

Blood. 1965 Nov;26(5):610-41.

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