Transmission of the cri-du-chat syndrome from a maternal balanced translocation carrier, t(5p-;11q+).

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作者信息

Singh D N, Osborne R A, Wiscovitch R A

出版信息

Humangenetik. 1973 Dec 20;20(4):361-5. doi: 10.1007/BF00273340.

DOI:10.1007/BF00273340

PMID:4768112

Abstract

摘要

相似文献

Transmission of the cri-du-chat syndrome from a maternal balanced translocation carrier, t(5p-;11q+).

Humangenetik. 1973 Dec 20;20(4):361-5. doi: 10.1007/BF00273340.

De novo appearance of a translocation t(5p; 2Iq), and its transmission in both balanced and unbalanced forms to the next generation.新发5号染色体短臂与21号染色体长臂易位t(5p; 21q)，并以平衡和不平衡形式传递给下一代。

Ann Genet. 1976 Mar;19(1):43-8.

Cri du chat-syndrome in combination with partial trisomy 9 p.猫叫综合征合并9号染色体短臂部分三体性

Padiatr Padol. 1986;21(1):61-7.

Cri du chat syndrome [46, XY, 5p-] with balanced B/F translocation in father and grandfather: a case report.父亲和祖父存在平衡的B/F易位的猫叫综合征[46, XY, 5p-]：一例报告

Birth Defects Orig Artic Ser. 1974;10(10):49-53.

[Cri-du-chat syndrome and trisomy 8p due to a paternal translocation t(5;8)(p1409;p12)].

Ann Genet. 1984;27(2):118-21.

Points of exchange in a human no. 5 ring chromosome.

Cytogenet Cell Genet. 1973;12(1):35-9. doi: 10.1159/000130435.

"Cri du chat" syndrome with maternal insertional translocation.伴有母源性插入性易位的猫叫综合征

Clin Genet. 1974;5(5):428-32.

Cri du chat syndrome and translocation t(5p--;18p+).猫叫综合征与易位t(5p--;18p+)

J Genet Hum. 1976 Sep;24(3):173-82.

Reciprocal translocation t(5;6)(p13;q27) through three generations: case report of cri du chat syndrome.三代遗传的相互易位t(5;6)(p13;q27)：猫叫综合征病例报告

Hum Genet. 1980 Feb;53(2):145-7. doi: 10.1007/BF00273485.

[Cri-du-chat syndrome and two other deformed children in a family carrying a pericentric inversion or insertion of chromosome 5].[患有5号染色体臂间倒位或插入的一个家族中的猫叫综合征及另外两名畸形儿童]

J Genet Hum. 1985 Dec;33(5):371-80.

引用本文的文献

The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.猫叫综合征：流行病学、细胞遗传学及临床特征

Hum Genet. 1978 Nov 16;44(3):227-75. doi: 10.1007/BF00394291.

本文引用的文献

A CASE OF PRIMARY AMENORRHEA WITH A TRANSLOCATION INVOLVING CHROMOSOMES OF GROUPS B AND C.一例原发性闭经合并B组和C组染色体易位的病例。

Am J Hum Genet. 1965 Sep;17(5):377-83.

A FAMILIAL 4/5 RECIPROCAL TRANSLOCATION RESULTING IN PARTIAL TRISOMY B.一个导致部分三体B的家族性4/5相互易位

Am J Hum Genet. 1965 Jan;17(1):54-70.

[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.

GROUP B/D TRANSLOCATION CHROMOSOME IN A CASE WITH STIGMATA OF THE D TRISOMY.

S Afr Med J. 1964 May 16;38:352-4.

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.

[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.

[Partial trisomy 18 caused by insertion or translocation 4/18].

Union Med Can. 1963 Mar;92:311-9.

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.

Translocation heterozygosis in man.人类的易位杂合性

Am J Hum Genet. 1966 Mar;18(2):215-25.

Clusterine in deleted short-arm length among 25 cases with a Bp-chromosome.25例具有B染色体的病例中，集簇蛋白在缺失的短臂长度中。

Cytogenetics. 1969;8(2):109-16. doi: 10.1159/000130028.

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