Power M M
Pathology Department, University College Dublin, Ireland.
Cytogenet Cell Genet. 1987;45(3-4):163-8. doi: 10.1159/000132448.
Two unrelated chromosome abnormalities were found in equine half sibs. The proposita, Case 1, which was short in stature and infertile, had a de novo unbalanced X;15 translocation involving loss of Xp. Replication studies indicated that the translocated X was preferentially late replicating and that this late replication spread variably into the autosomal segment. Case 2, a half brother of the proposita, was short in stature, had cryptorchidism, and was trisomic for chromosome 28. Cytogenetic analysis of the dam, the sire of Case 1, and two other phenotypically normal half sibs revealed normal chromosome complements. Five further normal pregnancies were reported. The finding of two unrelated chromosome abnormalities is therefore probably fortuitous in this family. This is the first case of an unbalanced X-autosome translocation and the first case of an autosome trisomy to be reported in the horse.
在马的半同胞中发现了两种不相关的染色体异常。先证者病例1身材矮小且不育,存在一种新的不平衡X;15易位,涉及Xp缺失。复制研究表明,易位的X染色体优先进行晚期复制,且这种晚期复制可变地扩展到常染色体区段。病例2是先证者的同父异母兄弟,身材矮小,患有隐睾症,并且28号染色体三体。对母马、病例1的父马以及另外两个表型正常的半同胞进行细胞遗传学分析,结果显示染色体组正常。还报告了另外5次正常妊娠。因此,在这个家族中发现两种不相关的染色体异常可能是偶然的。这是马中首次报道的不平衡X-常染色体易位病例,也是首次报道的常染色体三体病例。