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Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34).

作者信息

Pfeiffer R A, Ott R, Gilgenkrantz S, Alexandre P

出版信息

Hum Genet. 1982;62(4):358-60. doi: 10.1007/BF00304557.

DOI:10.1007/BF00304557
PMID:6985471
Abstract
摘要

相似文献

1
Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34).凝血因子VII和X缺乏与13号染色体（q34）缺失相关。来自两例核型为46,XY,t(13;Y)(q11;q34)病例的证据。
Hum Genet. 1982;62(4):358-60. doi: 10.1007/BF00304557.
2
Partial 4q duplication due to inherited der(13),t(4;13)(q26;q34)mat in a girl with a deficiency of factor X.
Hum Genet. 1980;53(3):303-4. doi: 10.1007/BF00287045.
3
Factor VII and factor X deficiency in a child with a chromosome 13q duplication and deletion.
Haemophilia. 2021 Jan;27(1):e127-e128. doi: 10.1111/hae.13065. Epub 2017 Jun 4.
4
The structural gene for human coagulation factor X is located on chromosome 13q34.
Cytogenet Cell Genet. 1985;39(3):231-3. doi: 10.1159/000132141.
5
Regional mapping of clotting factors VII and X to 13q34. Expression of factor VII through chromosome 8.凝血因子VII和X在13q34区域的定位。因子VII通过8号染色体表达。
Hum Genet. 1984;66(2-3):230-3. doi: 10.1007/BF00286607.
6
Inherited coagulation disorders.遗传性凝血障碍
Vet Clin North Am Small Anim Pract. 1988 Jan;18(1):231-43. doi: 10.1016/s0195-5616(88)50018-9.
7
Synergistic effect of factor VII gene polymorphisms causing mild factor VII deficiency in a case of severe factor X deficiency.
Blood Coagul Fibrinolysis. 2017 Jan;28(1):105-106. doi: 10.1097/MBC.0000000000000544.
8
Partial gene deletion in a family with factor X deficiency.
Blood. 1989 Jun;73(8):2123-7.
9
A further inherited variant of coagulation factor X.
Aust N Z J Med. 1974 Dec;4(6):561-4. doi: 10.1111/j.1445-5994.1974.tb03238.x.
10
[A new case of homozygous congenital factor VII deficiency. Associated factor X deficiency in some members of the family].
Ann Pediatr (Paris). 1971 Dec 14;18(12):817-23.

引用本文的文献

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Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development.对患有性发育差异的巴西综合征患者的细胞基因组研究。
Diagnostics (Basel). 2023 Jun 30;13(13):2235. doi: 10.3390/diagnostics13132235.
2
Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.大量患者队列中的家族性多种凝血因子缺乏症（FMCFDs）——单中心基因诊断经验
J Clin Med. 2021 Jan 18;10(2):347. doi: 10.3390/jcm10020347.
3
Molecular Characterization of Iranian Patients with Inherited Coagulation Factor VII Deficiency.

本文引用的文献

1
HEREDITARY DEFICIENCIES OF CLOTTING FACTORS VII AND X ASSOCIATED WITH CAROTID-BODY TUMORS.与颈动脉体瘤相关的凝血因子VII和X遗传性缺乏症。
N Engl J Med. 1964 Jan 2;270:6-13. doi: 10.1056/NEJM196401022700102.
2
Long arm deletion of chromosome 13 with exclusion of esterase D from 13q32 leads to 13qter.13号染色体长臂缺失，且13q32处的酯酶D缺失，导致13q末端缺失。
Clin Genet. 1980 Jun;17(6):428-32.
3
Report of the committee on the genetic constitution of chromosomes 13 to 22. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping.
伊朗遗传性凝血因子VII缺乏症患者的分子特征分析
Balkan J Med Genet. 2017 Dec 29;20(2):19-26. doi: 10.1515/bjmg-2017-0027. eCollection 2017 Dec.
4
Factor X Friuli Coagulation Disorder: Almost 50 Years Later.弗留利X因子凝血障碍：近50年后
Clin Appl Thromb Hemost. 2018 Jan;24(1):33-40. doi: 10.1177/1076029616686423. Epub 2016 Dec 29.
5
Surgical treatment for a paraplegic patient induced by congenital factor X deficiency.先天性因子X缺乏所致截瘫患者的外科治疗
Int J Clin Exp Med. 2015 Aug 15;8(8):13403-7. eCollection 2015.
6
Absence of subtelomeric rearrangements in selected patients with mental retardation as assessed by multiprobe T FISH.通过多探针T-FISH评估，特定智力障碍患者中不存在亚端粒重排。
J Negat Results Biomed. 2012 Dec 21;11:16. doi: 10.1186/1477-5751-11-16.
7
Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature.一名13号染色体长臂部分单体性和16号染色体短臂三体性患者的凝血因子VII缺乏与发育异常：病例报告及文献复习
BMC Med Genet. 2006 Jan 13;7:2. doi: 10.1186/1471-2350-7-2.
8
Germline duplication of chromosome 2p and neuroblastoma.2号染色体短臂的种系重复与神经母细胞瘤
J Med Genet. 1997 Nov;34(11):949-51. doi: 10.1136/jmg.34.11.949.
9
A polymorphism in the 5' region of coagulation factor VII gene (F7) caused by an inserted decanucleotide.
Hum Genet. 1993 Jan;90(5):575-6. doi: 10.1007/BF00217463.
10
Factor XKetchikan: a variant molecule in which Gly replaces a Gla residue at position 14 in the light chain.X因子凯奇坎：一种变体分子，其中甘氨酸取代了轻链中第14位的γ-羧基谷氨酸残基。
Hum Genet. 1995 Feb;95(2):212-4. doi: 10.1007/BF00209404.
关于13号至22号染色体遗传构成的委员会报告。奥斯陆会议（1981年）：第六届国际人类基因定位研讨会。
Cytogenet Cell Genet. 1982;32(1-4):161-78. doi: 10.1159/000131696.
4
[Congenital factor VII deficiency].
Med Klin. 1981 Jan 2;76(1):24-6.
5
The genetics of hereditary disorders of blood coagulation.
Science. 1973 Mar 30;179(4080):1291-8. doi: 10.1126/science.179.4080.1291.
6
[13q+ chromosome due to a probable translocation of a supernumerary Y].
Ann Genet. 1973 Sep;16(3):167-72.
7
Chromosome banding patterns in an infant with 13q minus syndrome.一名患有13号染色体长臂缺失综合征婴儿的染色体带型。
Humangenetik. 1974 Mar 28;21(4):309-14. doi: 10.1007/BF00273368.
8
Deletion of long arms of chromosome 13.13号染色体长臂缺失。
Humangenetik. 1975;27(3):255-7. doi: 10.1007/BF00278355.
9
Deletion long arm 13.13号染色体长臂缺失
Hum Genet. 1977 Jul 26;37(3):339-45. doi: 10.1007/BF00393617.
10
[Del (13) (q33). Exclusion of esterase D (ESD) from 13q33 and q34].[13号染色体长臂缺失（13）（q33）。酯酶D（ESD）基因定位于13q33和q34以外]
Ann Genet. 1978 Sep;21(3):189-92.