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。 - Suppr

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.

作者信息

De Capoa A, Warburton D, Breg W R, Miller D A, Miller O J

出版信息

Am J Hum Genet. 1967 Jul;19(4):586-603.

PMID:6036276

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1706310/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bfb5/1706310/f27f1996388c/ajhg00395-0139-a.jpg

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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.

Am J Hum Genet. 1967 Jul;19(4):586-603.

Cri du chat syndrome and translocation t(5p--;18p+).

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The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.

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引用本文的文献

A 45,XY,5-15-,t(5q15q) cri-du-chat child.

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On the localization of genes on certain autosomes of man through chromosome aberrations. 3. Exclusion of the possibility of gene assignment.

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Human chromosomal deficiency: the 4p--syndrome.

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

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

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.

A family with balanced translocation, t(5p-;Gp+).

J Med Genet. 1971 Jun;8(2):188-94. doi: 10.1136/jmg.8.2.188.

Neurological abnormalities in the 'cri-du-chat' syndrome.

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Paternal transmission of a B-D translocation, t(4p-; 14p + or 15p+), resulting in a partial 4p trisomy.

Humangenetik. 1972;16(3):251-9. doi: 10.1007/BF00273472.

[Partial trisomy for the short arm of chromosome 4 with translocation 4p-,18q+ in the father].

Humangenetik. 1972;15(2):163-71. doi: 10.1007/BF00295743.

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.

本文引用的文献

A 4-5/21-22 CHROMOSOMAL TRANSLOCATION ASSOCIATED WITH MULTIPLE CONGENITAL ANOMALIES.

Acta Paediatr (Stockh). 1964 Mar;53:172-81. doi: 10.1111/j.1651-2227.1964.tb07224.x.

Distinction between chromosome 4 and chromosome 5 by replication pattern and length of long and short arms.

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

[Crying cat syndrome with translocation 5/D 2].

Humangenetik. 1966;2(1):63-77. doi: 10.1007/BF00285911.

Alternative DNA replication patterns associated with long arm length of chromosomes 4 and 5 in the cri du chat syndrome.

Cytogenetics. 1966;5(3):137-51. doi: 10.1159/000129893.

[The deletion of the short arms of a group 4-5 chromosome. Study of a case].

Acta Paediatr Belg. 1965;19(3):167-79.

[5-21-22 translocation and the crying cat syndrome].

Ann Genet. 1965;8(1):31-8.

[The crying cat syndrome and its reciprocal].

Ann Genet. 1965;8(1):11-5.

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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.

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