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[尿道下裂的遗传学方面:关于362例病例的思考]

[Genetic aspects of hypospadias: considerations apropos of 362 cases].

作者信息

Abbate B, Danti D A, Mattei R, Noccioli B, Pampaloni A

机构信息

Unità Operativa di Chirurgia Pediatrica, USL 10/E, Ospedale Anna Meyer, Firenze, Italia.

出版信息

Pediatr Med Chir. 1994 Jan-Feb;16(1):77-9.

PMID:8029096
Abstract

The Authors present 362 cases of hypospadias, during 10 years, considering genetical aspects of the malformation. The mean frequency rate of hypospadias is 0.32%. In 60 of the examined patients (17.1%) there was another subject with hypospadias and in 12 cases (4.3%) there was a third subject with the malformation. In 32 cases (9.1%) the relationship was between brothers and in 15 cases (4.2%) the fathers were concerned. Thus, each group had a clean increasing risk in comparison with the mean frequency rate. From the analysis of the results appears a not mendelian inheritance and not even sex linked or single locus linked, in the transmission of the characters. The Authors emphasize the role of some hereditary predisposition in concomitance of environmental conditions, to date not well known. The hypospadias, thus, to fit in the "mid-line pathology", a recent chapter of genetics, characterized by a lack of coalescence, just in the mid-line of embryonal development, during organogenesis.

摘要

作者介绍了10年间362例尿道下裂病例,并考虑了该畸形的遗传学方面。尿道下裂的平均发病率为0.32%。在60例受检患者(17.1%)中,有另一例患有尿道下裂的患者,在12例(4.3%)中有第三位患有该畸形的患者。在32例(9.1%)中是兄弟关系,在15例(4.2%)中涉及父亲。因此,与平均发病率相比,每组都有明显增加的风险。从结果分析来看,在性状传递中既不是孟德尔遗传,也不是性连锁或单基因座连锁。作者强调了一些遗传易感性在环境条件并存中的作用,而目前这些环境条件尚不清楚。因此,尿道下裂符合“中线病理学”,这是遗传学的一个新章节,其特征是在胚胎发育的中线,即器官发生过程中缺乏融合。

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