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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.

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/bfb5/1706310/4774a8c4d460/ajhg00395-0145-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bfb5/1706310/f27f1996388c/ajhg00395-0139-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bfb5/1706310/f8ad70b4058f/ajhg00395-0140-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bfb5/1706310/2da4c8cd872c/ajhg00395-0141-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bfb5/1706310/e00b57ee68fc/ajhg00395-0142-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bfb5/1706310/4469f6d78110/ajhg00395-0142-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bfb5/1706310/6cdc175493cc/ajhg00395-0143-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bfb5/1706310/4774a8c4d460/ajhg00395-0145-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bfb5/1706310/f27f1996388c/ajhg00395-0139-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bfb5/1706310/f8ad70b4058f/ajhg00395-0140-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bfb5/1706310/2da4c8cd872c/ajhg00395-0141-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bfb5/1706310/e00b57ee68fc/ajhg00395-0142-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bfb5/1706310/4469f6d78110/ajhg00395-0142-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bfb5/1706310/6cdc175493cc/ajhg00395-0143-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bfb5/1706310/4774a8c4d460/ajhg00395-0145-a.jpg

相似文献

1
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.
2
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.
3
[Deficiency of the short arm of chromosome. 5. Crying cat syndrome].[5号染色体短臂缺失。猫叫综合征]
Nouv Presse Med. 1972 Mar 25;1(13):873-5.
4
The Cri du Chat syndrome.猫叫综合征。
J Ment Defic Res. 1966 Jun;10(2):153-7. doi: 10.1111/j.1365-2788.1966.tb00182.x.
5
Cri du chat syndrome.猫叫综合征
Arch Dis Child. 1966 Feb;41(215):97-101. doi: 10.1136/adc.41.215.97.
6
Cri du chat syndrome due to meiotic recombination in a pericentric inversion 5 carrier.一名5号染色体臂间倒位携带者因减数分裂重组导致的猫叫综合征。
Clin Genet. 1992 May;41(5):266-9. doi: 10.1111/j.1399-0004.1992.tb03679.x.
7
[Reverse type of cri du chat disease: 5 p trisomy].[猫叫综合征的反向型：5p三体]
Arch Fr Pediatr. 1975 Jun-Jul;32(6):551-61.
8
Unusual ocular findings in an infant with cri-du-chat syndrome.患有猫叫综合征婴儿的异常眼部表现。
J Med Genet. 1983 Aug;20(4):304-7. doi: 10.1136/jmg.20.4.304.
9
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.
10
[Crying cat syndrome with translocation 5/D 2].[伴有5号/2号染色体易位的猫叫综合征]
Humangenetik. 1966;2(1):63-77. doi: 10.1007/BF00285911.

引用本文的文献

1
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.
2
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.
3
Human chromosomal deficiency: the 4p--syndrome.人类染色体缺失：4p-综合征

本文引用的文献

1
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.
2
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.
3
[Crying cat syndrome with translocation 5/D 2].[伴有5号/2号染色体易位的猫叫综合征]
Humangenetik. 1970 Aug 17;10(1):51-7. doi: 10.1007/BF00297640.
4
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.
5
A case of cri-du-chat associated with cataracts and transmitted from a mother with a 4-5 translocation.一例与白内障相关的猫叫综合征，由一位携带4 - 5易位的母亲遗传而来。
J Med Genet. 1971 Sep;8(3):369-71. doi: 10.1136/jmg.8.3.369.
6
A family with balanced translocation, t(5p-;Gp+).一个患有平衡易位t(5p-;Gp+)的家庭。
J Med Genet. 1971 Jun;8(2):188-94. doi: 10.1136/jmg.8.2.188.
7
Neurological abnormalities in the 'cri-du-chat' syndrome.“猫叫综合征”中的神经学异常。
J Neurol Neurosurg Psychiatry. 1972 Oct;35(5):711-9. doi: 10.1136/jnnp.35.5.711.
8
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.
9
[Partial trisomy for the short arm of chromosome 4 with translocation 4p-,18q+ in the father].[父亲染色体4短臂部分三体伴4p-、18q+易位]
Humangenetik. 1972;15(2):163-71. doi: 10.1007/BF00295743.
10
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.
Humangenetik. 1966;2(1):63-77. doi: 10.1007/BF00285911.
4
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.
5
[The deletion of the short arms of a group 4-5 chromosome. Study of a case].[4 - 5组染色体短臂缺失。1例病例研究]
Acta Paediatr Belg. 1965;19(3):167-79.
6
[5-21-22 translocation and the crying cat syndrome].[5-21-22易位与猫叫综合征]
Ann Genet. 1965;8(1):31-8.
7
[The crying cat syndrome and its reciprocal].
Ann Genet. 1965;8(1):11-5.