Suppr超能文献

14号染色体长臂部分三体及亲代14号染色体易位。1例报告并文献复习。

Partial trisomy 14q -- and parental translocation of No. 14 chromosome. Report of a case and review of the literature.

作者信息

Simpson J, Zellweger H

出版信息

J Med Genet. 1977 Apr;14(2):124-7. doi: 10.1136/jmg.14.2.124.

Abstract

A case of partial trisomy 14 (47, + 14q-) is presented. The proband's mother had a balanced translocation of 14q with the long arm of a No. 3 chromosome. Clinical and cytogenetic findings of this case are compared with 5 other cases of 47, + 14q-, in which one parent had a balanced translocation of the distal part of the No. 14 long arm to another chromosome. It appears that this chromosomal aneuploidy produces a fairly typical clinical picture.

摘要

本文报告一例14号染色体部分三体(47, + 14q-)病例。先证者的母亲存在14号染色体长臂与3号染色体长臂的平衡易位。将该病例的临床和细胞遗传学发现与其他5例47, + 14q-病例进行了比较,在这些病例中,父母一方存在14号染色体长臂远端至另一条染色体的平衡易位。看来这种染色体非整倍体产生了相当典型的临床症状。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3066/1013527/157e5ffe787e/jmedgene00303-0045-a.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验