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一种复杂的染色体重排,导致15号染色体长臂2区2带至末端三体性。

A complex chromosome rearrangement resulting in trisomy 15q22 to qter.

作者信息

Howard-Peebles P N, Scarbrough P R, Sharpe J, Finley W H, Finley S C

出版信息

J Med Genet. 1982 Jun;19(3):224-7. doi: 10.1136/jmg.19.3.224.

DOI:10.1136/jmg.19.3.224
PMID:7108919
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1048872/
Abstract

A black infant with malformations was found to have trisomy 15q22→qter. The mother had a complex chromosomal rearrangement involving three chromosomes (5, 13, and 15). A comparison with previously published cases of trisomy for distal 15q suggests a pattern of clinical findings including retardation in growth and development, microcephaly, asymmetrical facies, prominent occiput, antimongoloid slant of the palpebral fissures, micrognathia, prominent nose, and congenital heart disease.

摘要

一名患有畸形的黑人婴儿被发现存在15号染色体长臂22区至末端三体。母亲有涉及三条染色体(5号、13号和15号)的复杂染色体重排。与先前发表的15号染色体长臂远端三体病例进行比较,发现其临床特征模式包括生长发育迟缓、小头畸形、面部不对称、枕部突出、睑裂反蒙古样倾斜、小颌畸形、鼻子突出以及先天性心脏病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a7a/1048872/f8bd45330562/jmedgene00113-0069-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a7a/1048872/8cac35010b66/jmedgene00113-0067-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a7a/1048872/8aac91c59e30/jmedgene00113-0067-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a7a/1048872/2543b75dceaf/jmedgene00113-0067-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a7a/1048872/f8bd45330562/jmedgene00113-0069-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a7a/1048872/8cac35010b66/jmedgene00113-0067-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a7a/1048872/8aac91c59e30/jmedgene00113-0067-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a7a/1048872/2543b75dceaf/jmedgene00113-0067-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a7a/1048872/f8bd45330562/jmedgene00113-0069-a.jpg

相似文献

1
A complex chromosome rearrangement resulting in trisomy 15q22 to qter.一种复杂的染色体重排,导致15号染色体长臂2区2带至末端三体性。
J Med Genet. 1982 Jun;19(3):224-7. doi: 10.1136/jmg.19.3.224.
2
Partial trisomy of chromosome 1 resulting from a complex maternal rearrangement of chromosomes 1, 5, and 6.1号染色体部分三体性,源于母亲1号、5号和6号染色体的复杂重排。
Am J Med Genet. 1979;3(4):353-8. doi: 10.1002/ajmg.1320030406.
3
Inherited pericentric inversion of chromosome no. 2 with Robertsonian translocation (13q 14q) resulting in trisomy for chromosome 13q.2号染色体遗传性臂间倒位合并罗伯逊易位(13q 14q),导致13q染色体三体。
J Genet Hum. 1977 Dec;25(4):295-301.
4
Partial monosomy 13q and partial trisomy 18p: case report with necropsy findings.13号染色体长臂部分单体性和18号染色体短臂部分三体性:尸检结果的病例报告
J Med Genet. 1986 Jun;23(3):260-3. doi: 10.1136/jmg.23.3.260.
5
Translocation, t(4qminus;13qplus), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation.三代中出现的易位,t(4q减;13q加),导致第四代染色体4长臂部分三体。
J Med Genet. 1974 Jun;11(2):201-5. doi: 10.1136/jmg.11.2.201.
6
Parental chromosomal aberrations associated with multiple abortions and an abnormal infant.与多次流产及一名异常婴儿相关的亲代染色体畸变
Obstet Gynecol. 1970 Nov;36(5):723-30.
7
[Autosomal chromosome aberrations].[常染色体畸变]
Arch Genet (Zur). 1979;52(1-2):1-204.
8
Trisomy D-trisomy E mosaicism in an infant male.一名男婴的D三体-E三体嵌合体
J Med Genet. 1971 Sep;8(3):384-6. doi: 10.1136/jmg.8.3.384.
9
Multiple congenital defects associated with trisomy for the short arm of chromosome 4.
J Med Genet. 1974 Sep;11(3):291-5. doi: 10.1136/jmg.11.3.291.
10
Autosomal syndromes.常染色体综合征
Pediatr Ann. 1978 Jun;7(6):94-5, 97-100, 102-7 passim.

引用本文的文献

1
Chromosome 15 structural abnormalities: effect on gene expression and function.15号染色体结构异常:对基因表达和功能的影响
Endocr Connect. 2017 Oct;6(7):528-539. doi: 10.1530/EC-17-0158.
2
Partial trisomy of chromosome 15q and partial monopsony of 6q due to maternal balanced translocation.由于母亲的平衡易位导致的15号染色体长臂部分三体和6号染色体长臂部分单体。
J Pediatr Neurosci. 2014 May;9(2):178-81. doi: 10.4103/1817-1745.139354.
3
Distal 15q trisomy: phenotypic comparison of nine cases in an extended family.15号染色体长臂末端三体综合征:一个大家庭中9例患者的表型比较

本文引用的文献

1
Complex chromosome rearrangements. Report of a new case and literature review.复杂染色体重排:1例新病例报告及文献复习
Clin Genet. 1980 Dec;18(6):436-44. doi: 10.1111/j.1399-0004.1980.tb01790.x.
2
Two familial cases with trisomy 15q dist due to a rcp(5;15)(p14;q21).两例因5号染色体短臂1区4带与15号染色体长臂2区1带相互易位导致15号染色体长臂部分三体的家族性病例。
Hum Genet. 1981;56(3):275-7. doi: 10.1007/BF00274678.
3
Inherited partial duplication of chromosome No. 15.15号染色体遗传性部分重复。
Am J Hum Genet. 1984 Mar;36(2):444-51.
4
Familial t(8;15)(p23.3;q22.3): report of two cases with dup(15) (q22.3----qter).家族性t(8;15)(p23.3;q22.3):两例伴有dup(15)(q22.3----qter)的病例报告。
J Med Genet. 1987 Nov;24(11):684-7. doi: 10.1136/jmg.24.11.684.
J Med Genet. 1974 Sep;11(3):287-91. doi: 10.1136/jmg.11.3.287.
4
[Partial trisomy for the distal part of the long arm of chromosome 15 due to a balanced maternal X/15 tranlsocation].[由于母亲的X/15平衡易位导致的15号染色体长臂远端部分的部分三体性]
Ann Genet. 1977 Dec;20(4):285-9.
5
[Distal trisomy 15q].[15q远端三体综合征]
Ann Genet. 1977 Sep;20(3):214-6.