PDF(Pubmed)
Abstract：
During development, the deletion of DNA from chromosome 13\'s short arm (q) causes a chromosomal abnormality known as chromosome 13q deletion syndrome. Chromosome 13 terminal deletions are rare and may cause various congenital disabilities, and only a few cases have been reported in the literature. The extent of chromosome 13q deletion syndrome changes lacks consistent clinical features, with no recorded cases of genital ambiguity until now. We report the case of a newborn male patient whose testes had descended on both sides; he had ambiguous genitalia, and the dorsal surface of his penis was attached to his scrotal sac. An abnormal karyotype (46, XY, deletion (13) q33) was discovered by using a G-banding analysis of chromosomes in a blood sample taken from the periphery, which revealed a deletion of chromosome 13 at the end of the first 10 cells. We can better characterize chromosome 13q deletions by establishing stronger correlations between karyotype and the distinctive phenotypes of haploinsufficient genes found on the chromosome.
摘要：
在开发过程中,染色体13的短臂（q）的DNA缺失导致染色体异常，称为染色体13q缺失综合征。染色体13末端缺失很少见，可能会导致各种先天性残疾，文献中只报道了少数病例。染色体13q缺失综合征改变的程度缺乏一致的临床特征，到目前为止还没有记录到生殖器歧义的病例。我们报告了一个新生儿男性患者的情况，他的睾丸两侧都下降了；他的生殖器模棱两可，他的阴茎背面附着在阴囊上。异常核型(46，XY，缺失（13）q33）是通过使用从外围采集的血液样本中染色体的G带分析发现的，这揭示了前10个细胞末端的13号染色体缺失。通过在核型与染色体上发现的单倍体不足基因的独特表型之间建立更强的相关性，我们可以更好地表征染色体13q缺失。
