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Familial 2/3 translocation.

作者信息

Summitt R L

出版信息

Am J Hum Genet. 1966 Mar;18(2):172-86.

PMID:4379334
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1706162/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2097/1706162/110393d61625/ajhg00399-0078-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2097/1706162/9f98a5b4e3f1/ajhg00399-0071-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2097/1706162/a1c37ac5ee58/ajhg00399-0073-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2097/1706162/42da4074af15/ajhg00399-0075-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2097/1706162/475ac6b62625/ajhg00399-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2097/1706162/a3723c3abf4e/ajhg00399-0077-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2097/1706162/110393d61625/ajhg00399-0078-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2097/1706162/9f98a5b4e3f1/ajhg00399-0071-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2097/1706162/a1c37ac5ee58/ajhg00399-0073-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2097/1706162/42da4074af15/ajhg00399-0075-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2097/1706162/475ac6b62625/ajhg00399-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2097/1706162/a3723c3abf4e/ajhg00399-0077-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2097/1706162/110393d61625/ajhg00399-0078-a.jpg

相似文献

1
Familial 2/3 translocation.家族性2/3易位
Am J Hum Genet. 1966 Mar;18(2):172-86.
2
[2 new cases of ring chromosome 14].[14号环状染色体的2例新病例]
Ann Pediatr (Paris). 1985 May;32(5):441-6.
3
[THE XXXXY SYNDROME].[XXXXY综合征]
Arch Kinderheilkd. 1964 Feb;170:20-33.
4
Cryptorchidism, chest deformities, and other congenital anomalies in three brothers.三兄弟中的隐睾症、胸部畸形及其他先天性异常。
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5
Translocation heterozygosis in man.人类的易位杂合性
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6
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.
7
Trisomy 13-15.13 - 15三体综合征
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8
Duplication deficiency syndrome in familial translocation (2q-;5p+).家族性易位(2号染色体长臂缺失;5号染色体短臂增加)中的重复缺失综合征
Humangenetik. 1971;12(2):110-22. doi: 10.1007/BF00291466.
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引用本文的文献

1
On the localization of genes on certain autosomes of man through chromosome aberrations. 3. Exclusion of the possibility of gene assignment.通过染色体畸变对人类某些常染色体上基因的定位。3. 排除基因定位的可能性。
Humangenetik. 1970;9(1):75-85. doi: 10.1007/BF00696016.
2
[Familial 2-C translocation: 46,XYt(2p-;Cp+) and 46,XXCp+].
Humangenetik. 1969 Oct;8(2):94-104. doi: 10.1007/BF00295832.
3
Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21).3号染色体q21重复导致qter缺失,p25导致pter综合征,见于臂间倒位inv(3)(p25q21)携带者的子女。

本文引用的文献

1
Familial Mongolism (Trisomy-21 Syndrome) Resulting from a "15/21" Chromosome Translocation in More than Three Generations of a Large Kindred.一个大家族三代以上因“15/21”染色体易位导致的家族性先天愚型(21-三体综合征)
Am J Hum Genet. 1962 Dec;14(4):335-44.
2
Familial Langdon Down anomaly with chromosomal fusion.
Ann Hum Genet. 1961 Dec;25:243-52. doi: 10.1111/j.1469-1809.1962.tb01524.x.
3
A Mongol girl with 46 chromosomes.一名拥有46条染色体的蒙古女孩。
Lancet. 1960 Apr 2;1(7127):721-4. doi: 10.1016/s0140-6736(60)90614-0.
Am J Hum Genet. 1975 Nov;27(6):699-718.
4
A cytogenetic survey of 200 unclassifiable mentally retarded children with congenital anomalies and 200 normal controls.对200名患有先天性异常的无法分类的智力迟钝儿童和200名正常对照进行细胞遗传学调查。
Hum Genet. 1977 Jul 26;37(3):329-38. doi: 10.1007/BF00393616.
5
Tissue limited mosaicism for unbalanced autosomal translocation in a child with congenital anomalies and mental retardation.
Eur J Pediatr. 1977 Jul 1;125(3):169-74. doi: 10.1007/BF00480593.
6
New chromosomal dysmorphic syndromes. 3. Partial trisomy 3q.新的染色体畸变综合征。3. 3q部分三体
Eur J Pediatr. 1979 Feb 8;130(2):111-25. doi: 10.1007/BF00442348.
4
PARTIAL TRISOMY-DEFICIENCY SYNDROME RESULTING FROM A RECIPROCAL TRANSLOCATION IN A LARGE KINDRED.一个大家族中因相互易位导致的部分三体-缺失综合征
Cytogenetics. 1964;3:81-96. doi: 10.1159/000129800.
5
[PARTIAL DELETION OF THE LONG ARMS OF THE CHROMOSOME 18].[18号染色体长臂部分缺失]
Pathol Biol. 1964 May;12:579-82.
6
[FAMILIAL SEGREGATION OF A 5-13 TRANSLOCATION DETERMINING PARTIAL MONOSOMY AND A TRISOMY OF THE SHORT ARM OF THE 5 CHROMOSOME: "CAT CRY" DISEASE AND ITS "RECEPROCAL"].[决定5号染色体短臂部分单体性和三体性的5-13易位的家族性分离:“猫叫”综合征及其“对应情况”]
C R Hebd Seances Acad Sci. 1964 Jun 8;258:5767-70.
7
[FAMILIAL 2 - 22 TRANSLOCATION; ASSOCIATION WITH A HAPLO-X TURNER'S SYNDROME].
Ann Genet. 1963;6:3-8.
8
[PARTIAL DELETION OF THE SHORT ARM OF CHROMOSOME 5. INDIVIDUALIZATION OF A NEW MORBID STATE].
Sem Hop. 1964 Apr 14;40:1069-79.
9
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.
10
[3 CASES OF PARTIAL DELETION OF THE SHORT ARM OF A 5 CHROMOSOME].[5号染色体短臂部分缺失3例]
C R Hebd Seances Acad Sci. 1963 Nov 18;257:3098-102.