13q缺失综合征 - Suppr

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超能文献

The 13q-deletion syndrome.

作者信息

Allderdice P W, Davis J G, Miller O J, Klinger H P, Warburton D, Miller D A, Allen F H, Abrams C A, McGilvray E

出版信息

Am J Hum Genet. 1969 Sep;21(5):499-512.

PMID:5347076

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1706574/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9613/1706574/2d12782ad095/ajhg00383-0089-a.jpg

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The 13q-deletion syndrome.13q缺失综合征

Am J Hum Genet. 1969 Sep;21(5):499-512.

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Chromosome banding patterns in an infant with 13q minus syndrome.一名患有13号染色体长臂缺失综合征婴儿的染色体带型。

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Syndrome associated with group-D chromosome deletions.与D组染色体缺失相关的综合征。

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[Crying cat syndrome discovered during a routine examination].[在一次常规检查中发现猫叫综合征]

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[Partial deletion of the short arm of chromosome 5 and partial deletion of the short arm of a chromosome of the group C (6-12)].[5号染色体短臂部分缺失及C组（6 - 12号）一条染色体短臂部分缺失]

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本文引用的文献

ABNORMALITIES WITH RING CHROMOSOME.环状染色体异常。

Lancet. 1965 Aug 28;2(7409):445. doi: 10.1016/s0140-6736(65)90802-0.

PALM-PRINTS AND A RING-D CHROMOSOME.掌纹与环形D染色体

Lancet. 1965 Sep 4;2(7410):494-5. doi: 10.1016/s0140-6736(65)91453-4.

CHROMOSOME DELETION IN A CASE OF RETINOBLASTOMA.视网膜母细胞瘤病例中的染色体缺失

Ann Hum Genet. 1963 Nov;27:171-4. doi: 10.1111/j.1469-1809.1963.tb00209.x.

Ring chromosomes in human beings.人类中的环状染色体。

Nature. 1962 Aug 18;195:733-4. doi: 10.1038/195733a0.

Multiple congenital abnormalities associated with ring chromosome.与环状染色体相关的多种先天性异常。

Lancet. 1963 Aug 10;2(7302):304-5. doi: 10.1016/s0140-6736(63)90212-5.

Absent thumbs with a ring D2 chromosome: a new deletion syndrome.伴有2号环状染色体的无拇指畸形：一种新的缺失综合征。

Am J Hum Genet. 1967 Sep;19(5):644-59.

A human ring D chromosome associated with multiple congenital abnormalities.一条与多种先天性异常相关的人类环状D染色体。

J Pediatr. 1967 Jun;70(6):936-41. doi: 10.1016/s0022-3476(67)80266-x.

A ring D chromosome and anomalous inheritance of haptoglobin type.一条环状D染色体与触珠蛋白类型的异常遗传

J Pediatr. 1967 Feb;70(2):172-9. doi: 10.1016/s0022-3476(67)80411-6.

The identification of the chromosomes of the D group (13-15) Denver: an autoradiographic and measurement study.D组（13 - 15）染色体的鉴定：一项放射自显影及测量研究。丹佛

Cytogenetics. 1966;5(3):186-205. doi: 10.1159/000129897.

The upper limb-cardiovascular syndrome. An autosomal dominant genetic effect on embryogenesis.上肢-心血管综合征。一种对胚胎发育的常染色体显性遗传效应。

JAMA. 1965 Sep 27;193(13):1080-6.

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