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Interstitial deletion of the long arm of chromosome 4.

作者信息

Chudley A E, Verna M R, Ray M, Riordan D

机构信息

Section of Clinical Genetics, Children's Hospital, Winnipeg, Manitoba, Canada.

出版信息

Am J Med Genet. 1988 Nov;31(3):549-51. doi: 10.1002/ajmg.1320310309.

DOI:10.1002/ajmg.1320310309
PMID:3228137
Abstract
摘要

相似文献

1
Interstitial deletion of the long arm of chromosome 4.
Am J Med Genet. 1988 Nov;31(3):549-51. doi: 10.1002/ajmg.1320310309.
2
Pierre-Robin sequence and severe mental retardation with chaotic behaviour associated with a small interstitial deletion in the long arm of chromosome 2 (del(2)(q331q333)).
Genet Couns. 1997;8(3):249-52.
3
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.
4
Duplication 11 (q21 to 23 leads to qter) syndrome.11号染色体重复(q21至23延伸至qter)综合征
Birth Defects Orig Artic Ser. 1977;13(3B):167-86.
5
Pierre-Robin anomalad, moderate mental retardation and distal 4q deletion.皮埃尔-罗宾综合征、中度智力发育迟缓与4号染色体长臂远端缺失
Ann Genet. 1981;24(3):187-8.
6
A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4.一名患有4号染色体长臂近端间质缺失的患者。
Am J Med Genet. 1988 Nov;31(3):553-7. doi: 10.1002/ajmg.1320310310.
7
Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature.4p15近端间质缺失综合征:三例报告并文献复习
Am J Med Genet. 1995 Jan 16;55(2):147-54. doi: 10.1002/ajmg.1320550203.
8
Rieger syndrome and interstitial 4q26 deletion.里格尔综合征与4号染色体长臂26区间质缺失
Genet Couns. 1992;3(3):153-4.
9
Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation.患有多种轻微异常和智力迟钝相似组合的患者中4号染色体短臂的间质缺失。
Am J Med Genet. 1995 Jul 17;57(4):588-97. doi: 10.1002/ajmg.1320570415.
10
A specific syndrome due to deletion of the distal long arm of chromosome 1.一种因1号染色体长臂远端缺失所致的特定综合征。
Am J Med Genet. 1987 Oct;28(2):371-6. doi: 10.1002/ajmg.1320280215.

引用本文的文献

1
Renal Dysplasia and Progressive Renal Failure in a Newborn with Interstitial Chromosome 4 Deletion 4q25-28.3: A New Phenotype?一名患有间质性4号染色体4q25 - 28.3缺失的新生儿的肾发育异常和进行性肾衰竭:一种新的表型?
J Pediatr Genet. 2021 Mar;10(1):39-44. doi: 10.1055/s-0039-1701043. Epub 2020 Jan 22.
2
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.Axenfeld-Rieger 综合征及 PITX2 和 FOXC1 基因突变谱。
Eur J Hum Genet. 2009 Dec;17(12):1527-39. doi: 10.1038/ejhg.2009.93. Epub 2009 Jun 10.
3
A new case of an interstitial deletion (4)(q25q27) characterised by molecular cytogenetic techniques and review of the literature.
Eur J Pediatr. 2003 Apr;162(4):267-70. doi: 10.1007/s00431-003-1161-7. Epub 2003 Feb 19.
4
Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation.一名患有(4)(q25→q27)间质性缺失的男孩出现多种先天性异常,包括里格尔眼畸形,其父亲表型正常,但存在平衡插入,提示单倍型不足导致里格尔畸形。
J Med Genet. 1997 Dec;34(12):1012-4. doi: 10.1136/jmg.34.12.1012.
5
Toward the complete genomic map and molecular pathology of human chromosome 4.迈向人类4号染色体的完整基因组图谱和分子病理学
Hum Genet. 1994 Jul;94(1):1-18. doi: 10.1007/BF02272834.