一位嵌合体母亲及其猫叫综合征后代中的一条缺失B染色体。 - Suppr

Suppr

超能文献

A deleted B chromosome in a mosaic mother and her cri du chat progeny.

作者信息

Philip J, Brandt N J, Friis-Hansen B, Mikkelsen M, Tygstrup I

出版信息

J Med Genet. 1970 Mar;7(1):33-6. doi: 10.1136/jmg.7.1.33.

DOI:10.1136/jmg.7.1.33

PMID:5496136

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1468911/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db94/1468911/2e5d9568480a/jmedgene00368-0041-a.jpg

相似文献

A deleted B chromosome in a mosaic mother and her cri du chat progeny.一位嵌合体母亲及其猫叫综合征后代中的一条缺失B染色体。

J Med Genet. 1970 Mar;7(1):33-6. doi: 10.1136/jmg.7.1.33.

A case of cri-du-chat associated with cataracts and transmitted from a mother with a 4-5 translocation.

J Med Genet. 1971 Sep;8(3):369-71. doi: 10.1136/jmg.8.3.369.

[The clinical manifestations and cytogenetic observations of 7 cases affected by the cri-du-chat syndrome].

Z Kinderheilkd. 1968 Oct 9;104(3):230-56.

Cri-du-chat syndrome. Case report.猫叫综合征。病例报告。

Helv Paediatr Acta. 1967 Apr;22(1):22-7.

A 45,XY,5-15-,t(5q15q) cri-du-chat child.一名45，XY，5 - 15 -，t(5q15q)的猫叫综合征患儿。

J Med Genet. 1970 Jun;7(2):161-3. doi: 10.1136/jmg.7.2.161.

Mosaic Cri du Chat syndrome in a patient exhibiting three 5p cell lines.一名表现出三种5p细胞系的患者患有嵌合型猫叫综合征。

Prenat Diagn. 2004 Jul;24(7):578-9. doi: 10.1002/pd.906.

Clinical, cytogenetic and autoradiographic studies in 10 cases with rare chromosome disorders II. Cases 3,4 and 5.10例罕见染色体疾病的临床、细胞遗传学及放射自显影研究II。病例3、4和5。

Ann Genet. 1970 Jun;13(2):129-34.

Phenotypic and phoniatric findings in mosaic cri du chat syndrome.嵌合型猫叫综合征的表型和嗓音学特征

Am J Med Genet. 1991 Jun 15;39(4):391-5. doi: 10.1002/ajmg.1320390405.

A pericentric inversion, 5 p-q+, and additional complex rearrangements in a case of cri-du-chat syndrome.一例猫叫综合征患者中的臂间倒位、5p-q+及其他复杂重排

Cytogenetics. 1971;10(1):50-60. doi: 10.1159/000130126.

"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.

引用本文的文献

Mosaic cri-du-chat syndrome in a girl with a mild phenotype.一名具有轻度表型女孩的嵌合型猫叫综合征。

J Appl Genet. 2008;49(4):415-20. doi: 10.1007/BF03195641.

Morphogenetic disturbances in a spontaneous abortus with trisomy B.

Humangenetik. 1974;25(1):53-9. doi: 10.1007/BF00281006.

Autosomal deletions 46,XY,del(12)(p11) and 46,XY-46,XY,del(5)(p13) with no effect on physical or mental development.

Humangenetik. 1974 Feb 21;21(2):127-32. doi: 10.1007/BF00281031.

Cytologic observations in 35 individuals with a 5p- karyotype.35例具有5号染色体短臂缺失核型个体的细胞学观察。

Hum Genet. 1978 Jun 9;42(2):143-56. doi: 10.1007/BF00283634.

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

KARYOTYPES OF 130 CHILDLESS MEN.130名无子女男性的核型

Lancet. 1965 Sep 4;2(7410):493-4. doi: 10.1016/s0140-6736(65)91450-9.

[MONGOL CHILD-MOSAIC PARENT. STUDY OF 2 FAMILIES].[蒙古儿童-嵌合型父母。两个家族的研究]

J Genet Hum. 1964 Dec;13:315-36.

PHOTOGRAPHIC RECORDING AND DYE STAINING OF CHROMOSOMES FOR AUTORADIOGRAPHY AND MORPHOLOGY.用于放射自显影和形态学研究的染色体摄影记录与染料染色

Stain Technol. 1965 Jan;40:41-3. doi: 10.3109/10520296509116373.

MOSAIC TRISOMY IN PHENOTYPICALLY NORMAL MOTHER OF MONGOL.患唐氏综合征的表型正常母亲中的嵌合三体现象

Lancet. 1964 Mar 7;1(7332):526-7. doi: 10.1016/s0140-6736(64)92912-5.

MATERNAL MOSAICISM AND DOWN'S SYNDROME (MONGOLISM).母体嵌合体与唐氏综合征（先天愚型）。

J Pediatr. 1963 Oct;63:599-604. doi: 10.1016/s0022-3476(63)80370-4.

[Chromosome anomalies in the blood cells of a child with multiple abnormalities].[一名患有多种异常的儿童血细胞中的染色体异常]

Klin Wochenschr. 1962 Oct 15;40:1058-67. doi: 10.1007/BF01484591.

Chromosome preparations of leukocytes cultured from human peripheral blood.从人外周血培养的白细胞的染色体标本制备。

Exp Cell Res. 1960 Sep;20:613-6. doi: 10.1016/0014-4827(60)90138-5.

Detection of minute deletions in human karyotypes.

Cytogenetics. 1969;8(2):97-108. doi: 10.1159/000130027.

[The clinical manifestations and cytogenetic observations of 7 cases affected by the cri-du-chat syndrome].

Z Kinderheilkd. 1968 Oct 9;104(3):230-56.

[Two cases of 18q- syndrome with mosaicism (46,XX / 46,XX, 18q-)].

Ann Genet. 1967 Mar;10(1):18-24.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验