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Multiple congenital defects associated with trisomy for the short arm of chromosome 4.

作者信息

Owen L, Martin B, Blank C E, Harris F

出版信息

J Med Genet. 1974 Sep;11(3):291-5. doi: 10.1136/jmg.11.3.291.

DOI:10.1136/jmg.11.3.291
PMID:4431034
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013146/
Abstract

The clinical and cytogenetic findings of a female infant with multiple congenital anomalies and trisomy for the short arm of chromosome 4(46,XX,21p+) are described. The abnormal chromosome was inherited from the father who had a balanced translocation between the short arm of chromosome 4 and the short arm of chromosome 21. Clinical features are compared with those of one definite and one probable previously described case of trisomy for the short arm of chromosome 4. It is suggested that a clinical syndrome associated with +4p eventually may be identified.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d22e/1013146/30ea98f90e1b/jmedgene00320-0074-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d22e/1013146/fb28a2acb8a6/jmedgene00320-0072-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d22e/1013146/0d8883fa5453/jmedgene00320-0072-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d22e/1013146/00823fb54302/jmedgene00320-0073-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d22e/1013146/30ea98f90e1b/jmedgene00320-0074-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d22e/1013146/fb28a2acb8a6/jmedgene00320-0072-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d22e/1013146/0d8883fa5453/jmedgene00320-0072-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d22e/1013146/00823fb54302/jmedgene00320-0073-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d22e/1013146/30ea98f90e1b/jmedgene00320-0074-a.jpg

相似文献

1
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.
2
Trisomy 9p resulting from maternal 9/21 translocation.由母亲的9号与21号染色体易位导致的9号染色体短臂三体。
Hum Genet. 1976 May 19;32(2):217-20. doi: 10.1007/BF00291508.
3
The aetiology of the cat eye syndrome reconsidered.猫眼综合征病因再探讨。
J Med Genet. 1981 Apr;18(2):108-18. doi: 10.1136/jmg.18.2.108.
4
[Familial translocation t(4;22) (p11;p12) and trisomy 4p in 2 sisters].[两姐妹中的家族性4号与22号染色体易位t(4;22)(p11;p12)及4号染色体短臂三体]
Ann Genet. 1974 Jun;17(2):119-24.
5
Case report. Familial 4-22 translocation with partial trisomy for the short arm of chromosome 4 in two sibs.病例报告。两例同胞兄弟出现家族性4号与22号染色体易位并伴有4号染色体短臂部分三体。
Acta Paediatr Scand. 1974 Jul;63(4):631-5. doi: 10.1111/j.1651-2227.1974.tb04860.x.
6
Partial trisomy 18 in a family with a translocation (18;21)(q21;q22).一个患有（18；21）（q21；q22）易位的家族中的18号染色体部分三体。
J Med Genet. 1978 Apr;15(2):148-51. doi: 10.1136/jmg.15.2.148.
7
Trisomy 22.
J Genet Hum. 1975 Mar;23(1):65-75.
8
Trisomy 4p in a family with A t(4;15).一个患有t(4;15)的家族中的4号染色体短臂三体。
Ann Genet. 1975 Mar;18(1):13-9.
9
Monosomy for the centromeric and juxtacentromeric region of chromosome 21.
Humangenetik. 1974;24(3):191-5. doi: 10.1007/BF00283583.
10
[Partial 14q trisomy. I. Partial 14q trisomy by maternal translocation t(10;14) (p15.2;q22)].[14号染色体部分三体。I. 因母亲的t(10;14)（p15.2;q22）易位导致的14号染色体部分三体]
Ann Genet. 1975 Mar;18(1):35-9.

引用本文的文献

1
Clinical manifestations of trisomy 4p syndrome.4p三体综合征的临床表现。
Eur J Pediatr. 1995 Jun;154(6):425-31. doi: 10.1007/BF02029349.
2
[Trisomy 4p. Three new observations (author's transl)].
Humangenetik. 1975 Nov 6;30(2):99-108. doi: 10.1007/BF00291941.
3
Trisomy 4p14 leads to 4pter with translocation t(4;15)(p14;p12) in the father.4号染色体短臂14区三体导致父亲出现4号染色体短臂末端与15号染色体的易位，即t(4;15)(p14;p12) 。
Humangenetik. 1975 Oct 7;29(4):329-35. doi: 10.1007/BF00394195.

本文引用的文献

1
A 4-5/21-22 CHROMOSOMAL TRANSLOCATION ASSOCIATED WITH MULTIPLE CONGENITAL ANOMALIES.一种与多种先天性异常相关的4-5/21-22染色体易位
Acta Paediatr (Stockh). 1964 Mar;53:172-81. doi: 10.1111/j.1651-2227.1964.tb07224.x.
2
Translocation heterozygosis: a cause of five cases of the cri du chat syndrome and two cases with a duplication of chromosome number five in three families.易位杂合性：三个家庭中五例猫叫综合征及两例5号染色体重复病例的病因。
Am J Hum Genet. 1967 Jul;19(4):586-603.
3
[Segregation of a balanced translocation t(5p-;Gp+)].
4
Hand dermatoglyphics in trisomy 4p.4p三体综合征中的手部皮纹学
Hum Genet. 1976 Dec 15;34(3):271-6. doi: 10.1007/BF00295290.
5
'Complete 5p' trisomy: 1 case and 19 translocation carriers in 6 generations.“5号染色体短臂完全三体”：1例病例及6代家族中的19位易位携带者
J Med Genet. 1977 Aug;14(4):271-4. doi: 10.1136/jmg.14.4.271.
6
Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.易导致相邻的2:1和3:1分离的因素：对161例人类相互易位的研究
J Med Genet. 1979 Dec;16(6):467-78. doi: 10.1136/jmg.16.6.467.
[一个平衡易位t(5p-;Gp+)的分离]
Ann Genet. 1968 Dec;11(4):247-52.
4
[Genetic and clinical study of a family of 7 children in which 3 persons have "crying cat syndrome"].
Ann Genet. 1966 Sep;9(3):113-22.
5
[The crying cat syndrome and its reciprocal].
Ann Genet. 1965;8(1):11-5.
6
[Partial trisomy for the short arm of chromosome 4 with translocation 4p-,18q+ in the father].[父亲染色体4短臂部分三体伴4p-、18q+易位]
Humangenetik. 1972;15(2):163-71. doi: 10.1007/BF00295743.
7
A rapid banding technique for human chromosomes.一种用于人类染色体的快速显带技术。
Lancet. 1971 Oct 30;2(7731):971-2. doi: 10.1016/s0140-6736(71)90287-x.