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[瑞士荷斯坦奶牛犊牛的毛发稀少和少牙症,伴有Xq缺失]

[Hypotrichosis and oligodontia, combined with an Xq-deletion, in a calf of the Swiss Holstein breed].

作者信息

Braun U, Ansari H A, Hediger R, Süss U, Ehrensperger F

机构信息

Veterinär-Medizinischen Klinik der Universität Zürich.

出版信息

Tierarztl Prax. 1988;16(1):39-44.

PMID:3368908
Abstract

Hypotrichosis and oligodontia associated with a chromosomal anomaly (Xq-deletion) are described in a 11-month old cattle (Simmenthal/Red Holstein cross-breed). This chromosomal anomaly was accompanied with hairlessness and grievous teeth abnormalities. The animal had a very thin haircoat, had only one incisor and between one to three molars per mandible or maxilla. This resulted in reduced food intake, reduced rumination, and retarded growth. Post-mortem examination revealed lesions in the kidneys (bilateral chronic interstitial nephritis), adrenals (hyperplasia), pancreas (focal fibrosis) and abomasum (obstipation and multiple ulcers). Some of these abnormalities are comparable with the human "anhidrotic ectodermal dysplasia" (Christ-Siemens-Touraine syndrome) and supports the hypothesis that there are homologies in the X-chromosome of different mammals.

摘要

一头11月龄的牛(西门塔尔/红荷斯坦杂交品种)被描述患有与染色体异常(Xq缺失)相关的毛发稀少和少牙症。这种染色体异常伴有无毛症和严重的牙齿异常。该动物毛发稀疏,每侧下颌骨或上颌骨仅一颗门牙,臼齿有一到三颗。这导致采食量减少、反刍减少和生长发育迟缓。尸检发现肾脏(双侧慢性间质性肾炎)、肾上腺(增生)、胰腺(局灶性纤维化)和皱胃(便秘和多处溃疡)有病变。其中一些异常与人类的“无汗性外胚层发育不良”(克里斯-西门子-图赖讷综合征)相似,支持了不同哺乳动物X染色体存在同源性的假说。

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