一名患有多种先天性异常且C组（X-6-12）存在环状染色体的婴儿。 - Suppr

An infant with multiple congenital anomalies and a ring chromosome in group C (X-6-12).

作者信息

Butler L J, France N E, Jacoby N M

出版信息

J Med Genet. 1967 Dec;4(4):295-8. doi: 10.1136/jmg.4.4.295.

DOI:10.1136/jmg.4.4.295

PMID:6082910

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1468560/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b3a3/1468560/54ea5a4f0a5c/jmedgene00383-0070-a.jpg

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The malformations of the urinary system in autosomal disorders.

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本文引用的文献

RING CHROMOSOME MOSAICISM IN A SEVERELY SUBNORMAL CHILD WITH MULTIPLE CONGENITAL MALFORMATIONS.

J Ment Defic Res. 1965 Mar;9:39-50. doi: 10.1111/j.1365-2788.1965.tb00819.x.

ABSENCE OF LATE REPLICATION OF A HUMAN X-RING CHROMOSOME.

Nature. 1964 Nov 21;204:804-5. doi: 10.1038/204804b0.

RING-1 CHROMOSOME AND MICROCEPHALIC DWARFISM.

Lancet. 1964 Dec 5;2(7371):1212-3. doi: 10.1016/s0140-6736(64)91045-1.

MULTIPLE CONGENITAL ANOMALIES ASSOCIATED WITH A PARTIALLY RING-SHAPED CHROMOSOME PROBABLY DERIVED FROM CHROMOSOME NO. 18 IN MAN.

Nature. 1964 May 23;202:829-30. doi: 10.1038/202829a0.

CYTOGENETIC STUDIES IN MENTAL RETARDATION.

Proc Aust Assoc Neurol. 1963 May;72:41-2.

A RING-X-CHROMOSOME IN PART OF THE SOMATIC CELLS OF A PATIENT WITH SOME CHARACTERISTICS OF THE TURNER SYNDROME.

Genetica. 1964;35:1-14. doi: 10.1007/BF01804870.

A SMALL AUTOSOMAL RING CHROMOSOME IN A FEMALE INFANT WITH CONGENITAL MALFORMATIONS.

Ann Hum Genet. 1963 Nov;27:189-95. doi: 10.1111/j.1469-1809.1963.tb00212.x.

Ring chromosomes in human beings.

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

A ring chromosome in man.

Nature. 1963 Jan 5;197:102-3. doi: 10.1038/197102b0.

Multiple congenital abnormalities associated with ring chromosome.

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

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An infant with multiple congenital anomalies and a ring chromosome in group C (X-6-12).

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