一名患有多种先天性异常的患者1号染色体长臂缺失。储存库识别号：GM - 2025。 - Suppr

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超能文献

Deletion in the long arm of chromosome 1 from a subject with multiple congenital anomalies. Respository identification No. GM-2025.

作者信息

Sekhon G S, Hillman R E, Yu R, Aronson M M, Greene A E, Coriell L L

出版信息

Cytogenet Cell Genet. 1978;21(3):176. doi: 10.1159/000130894.

DOI:10.1159/000130894

PMID:657850

Abstract

摘要

相似文献

Deletion in the long arm of chromosome 1 from a subject with multiple congenital anomalies. Respository identification No. GM-2025.一名患有多种先天性异常的患者1号染色体长臂缺失。储存库识别号：GM - 2025。

Cytogenet Cell Genet. 1978;21(3):176. doi: 10.1159/000130894.

Interstitial deletion in the long arm of chromosome 1 in a subject with congenital abnormalities. Repository identification No. GM-214.一名患有先天性异常的受试者1号染色体长臂的间质性缺失。储存库识别号GM - 214。

Cytogenet Cell Genet. 1979;23(3):220. doi: 10.1159/000131330.

Deletion of the short arm of chromosome 2 from a subject with congenital anomalies. Repository identification no. GM-1138.一名患有先天性异常患者的2号染色体短臂缺失。储存库识别号：GM - 1138。

Cytogenet Cell Genet. 1977;18(2):108. doi: 10.1159/000130755.

Duplication of a segment of chromosome 3 in a subject with multiple congenital anomalies and a 47,XYY father, inversion of chromosomes 3 and 9 in the mother, and inversion of chromosome 9 in a brother. Repository identification Nos. GM-1253, GM-1252, and GM-1251.一名患有多种先天性异常的患者存在3号染色体片段重复，其父亲为47,XYY，母亲存在3号和9号染色体倒位，其兄弟存在9号染色体倒位。储存库识别编号：GM - 1253、GM - 1252和GM - 1251。

Cytogenet Cell Genet. 1979;24(2):127-8. doi: 10.1159/000131367.

A (14;20) translocation, unbalanced, from a subject with severe congenital anomalies. Respository identification No. GM-981.

Cytogenet Cell Genet. 1978;21(3):173. doi: 10.1159/000130891.

Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies.

Hum Genet. 1983;64(1):97. doi: 10.1007/BF00289488.

Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation.

Hum Genet. 1983;64(1):98. doi: 10.1007/BF00289489.

A new syndrome of proximal deletion of the long arm of chromosome 1: 1q21-23 leads to 1q25.一种新的染色体1长臂近端缺失综合征：1q21 - 23缺失导致1q25缺失。

Am J Med Genet. 1982 Dec;13(4):423-30. doi: 10.1002/ajmg.1320130411.

Interstitial deletion of the long arm of chromosome 2: case report and review of literature.2号染色体长臂间质性缺失：病例报告及文献复习

Ann Genet. 1981;24(4):245-7.

Interstitial deletion of the long arm of chromosome 3.

Ann Genet. 1983;26(2):98-9.

引用本文的文献

Prenatal diagnosis of a rare de novo 1q22-q25.1 chromosomal deletion syndrome using oligo array CGH.使用寡核苷酸阵列比较基因组杂交技术对罕见的新发1q22-q25.1染色体缺失综合征进行产前诊断。

Clin Case Rep. 2018 Jun 13;6(8):1464-1469. doi: 10.1002/ccr3.1604. eCollection 2018 Aug.

A new case of interstitial 1q 25.3-32.1 deletion: cytogenetic analysis molecular characterization and ultrasound findings.间质性1q25.3 - 32.1缺失一例：细胞遗传学分析、分子特征及超声检查结果

J Prenat Med. 2015 Jan-Jun;9(1-2):8-11. doi: 10.11138/jpm/2015.9.1.008.

Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1.与1号染色体长臂间质性缺失相关的轻度表型。

J Med Genet. 1998 Dec;35(12):1047-9. doi: 10.1136/jmg.35.12.1047.

Interstitial deletion in the long arms of chromosome 1: 46,XY,del(1)(pter leads to q22::q25 leads to qter).1号染色体长臂间质缺失：46，XY，del(1)(pter导致q22::q25导致qter) 。

J Med Genet. 1980 Dec;17(6):483-6. doi: 10.1136/jmg.17.6.483.

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