一名患有18号染色体异常增大的女孩的免疫球蛋白异常 - Suppr

Immunoglobulin abnormality in a girl with a large chromosome 18.

作者信息

Yanagisawa S

出版信息

J Med Genet. 1972 Sep;9(3):360-5. doi: 10.1136/jmg.9.3.360.

DOI:10.1136/jmg.9.3.360

PMID:4116772

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1469126/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b37f/1469126/eb6545267a24/jmedgene00362-0111-a.jpg

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A NEW TRISOMY-TRANSLOCATION CHROMOSOME (LONG-ARM E/E).

Lancet. 1963 Dec 21;2(7321):1309-10. doi: 10.1016/s0140-6736(63)90851-1.

IgA deficiency associated with partial deletion of chromosome 18.

Am J Dis Child. 1969 Feb;117(2):129-36. doi: 10.1001/archpedi.1969.02100030131001.

Clinical and chromosomal studies of the 18q- syndrome.

J Pediatr. 1971 Jan;78(1):44-52. doi: 10.1016/s0022-3476(71)80262-7.

Ring chromosome 18 in mother and daughter.

J Ment Defic Res. 1970 Mar;14(1):49-67. doi: 10.1111/j.1365-2788.1970.tb01099.x.

Absent IgA and deletions of chromosome 18.

J Med Genet. 1970 Mar;7(1):11-9. doi: 10.1136/jmg.7.1.11.

[Ring-chromosome 18 and IgA deficiency in a 6-year-old girl (46,XX,18r)].

Z Kinderheilkd. 1970;109(1):1-10.

Immunological profile in a chromosome 18 deletion syndrome with IgA deficiency.

J Med Genet. 1969 Dec;6(4):388-93. doi: 10.1136/jmg.6.4.388.

18p-Gq-mosaicism in a girl with absent IgA.

R I Med J. 1970 Nov;53(11):623-5 passim.

Gene deletion and duplication effects on phenotype and gamma globulin levels.

J Med Genet. 1971 Mar;8(1):97-106. doi: 10.1136/jmg.8.1.97.

The use of quinacrine fluorescence in the identification of B and E group chromosomes involved in structural abnormalities.

J Med Genet. 1971 Jun;8(2):240-3. doi: 10.1136/jmg.8.2.240.

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Immunoglobulin abnormality in a girl with a large chromosome 18.

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