Suppr超能文献

9号染色体三体和部分9号染色体单体综合征的皮纹学及临床特征。

The dermatoglyphic and clinical features of the 9p trisomy and partial 9p monosomy syndromes.

作者信息

Young R S, Reed T, Hodes M E, Palmer C G

出版信息

Hum Genet. 1982;62(1):31-9. doi: 10.1007/BF00295601.

Abstract

The physical and dermatoglyphic features obtained from published reports of 128 patients with the trisomy 9p syndrome and 27 patients with the partial 9p monosomy syndrome are tabulated. This information is also provided on two new individuals with each of these chromosomal disorders. The dermal ridge patterns and palmar creases of trisomy 9p which are most helpful from a diagnostic standpoint are zygodactylous or absent palmar digital triradii, brachymesophalangy, reduced total finger ridge count, complex thenar/ID I patterns, transverse palmar ridge alignment, simian creases, distal axial triradii, and great toe and hallucal arch patterns. The characteristic features in partial 9p monosomy include dolichomesophalangy with accessory finger flexion creases, digital whorl patterns and elevated total finger ridge count, distal axial triradii, simian creases, and palmar dermal ridge dissociation.

摘要

我们将128例9p三体综合征患者和27例部分9p单体综合征患者已发表报告中的身体特征和皮纹特征制成表格。同时,也给出了这两种染色体疾病各两例新患者的相关信息。从诊断角度来看,9p三体最具诊断价值的皮嵴模式和掌纹特征有:对指或无掌部指三叉点、中节指骨短、总指嵴数减少、大鱼际/ID I复合模式、横向掌嵴排列、猿线、远心端轴三叉点以及拇趾和拇趾弓模式。部分9p单体的特征包括中节指骨长并伴有额外的手指屈褶、指螺模式和总指嵴数增加、远心端轴三叉点、猿线以及掌部皮嵴分离。

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