Screening for minute deletions in patients with suspected cri-du-chat syndrome and apparently normal karyotype.

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作者信息

Hoehn H, Engel W

出版信息

Humangenetik. 1969 Oct;8(2):105-10. doi: 10.1007/BF00295833.

DOI:10.1007/BF00295833

PMID:5365580

Abstract

摘要

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Screening for minute deletions in patients with suspected cri-du-chat syndrome and apparently normal karyotype.

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引用本文的文献

Human chromosomal deficiency: the 4p--syndrome.人类染色体缺失：4p-综合征

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The 18 p-syndrome. Report of four cases.18号染色体短臂缺失综合征。4例报告。

Eur J Pediatr. 1976 Aug 16;123(1):59-66. doi: 10.1007/BF00497681.

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

PARTIAL DELETION OF THE SHORT ARMS OF A CHROMOSOME OF THE 4-5 GROUP (DENVER).第4-5组（丹佛）染色体短臂的部分缺失

Arch Dis Child. 1965 Feb;40(209):82-5. doi: 10.1136/adc.40.209.82.

CHROMOSOMAL AUTORADIOGRAPHY IN THE CRI DU CHAT SYNDROME.猫叫综合征的染色体放射自显影术

Cytogenetics. 1964;3:347-52.

"CRI DU CHAT" SYNDROME. A NEW CLINICAL AND CYTOGENETIC ENTITY.“猫叫综合征”。一种新的临床和细胞遗传学实体。

Lancet. 1965 Jan 2;1(7375):23-5. doi: 10.1016/s0140-6736(65)90926-8.

[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.

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.

Distinction between chromosome 4 and chromosome 5 by replication pattern and length of long and short arms.通过复制模式以及长短臂长度区分4号染色体和5号染色体。

Am J Hum Genet. 1967 May;19(3 Pt 2):399-415.

[Choice of a method for measuring human chromosomes].

Humangenetik. 1966;2(4):381-6. doi: 10.1007/BF00396456.

Chromosome mosaicism in a child with features characteristic of the 'Cat Cry' syndrome.一名具有“猫叫综合征”特征的儿童中的染色体嵌合体现象。

J Med Genet. 1966 Mar;3(1):66-9. doi: 10.1136/jmg.3.1.66.

[Clinical and genetic studies of a patient with crying cat syndrome].[一名猫叫综合征患者的临床与遗传学研究]

Dtsch Med Wochenschr. 1965 Nov 5;90(45):2008-13. doi: 10.1055/s-0028-1113464.

Detection of minute deletions in human karyotypes.

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

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