Ocak Z, Surucu R
Department of Medical Genetics Siileymaniye Maternity Hospital for Research and Training, Zeytinbumu, Istanbul, Turkey.
Genet Couns. 2012;23(2):297-304.
This is a unique case of intrachromosomal triplication of the X chromosome q arm detected with cytogenetic and spectral karyotyping in a 21-year-old woman with primary amenorrhea, who had been referred because of primary hypergonadotropic hypogonadism and Mullerian hypoplasia. Intrachromosomal triplications are rare rearrangements resulting in partial tetrasomy. Since 1993, at least 34 cases of intrachromosomal triplications involving 9 different chromosomes have been reported. The vast majority of the reported triplications are on the 15th chromosome, arised de novo and had middle inverted repetitions. In this report the genotype-fenotype correlation in a case of primary amenorrhea associated with triplication of the X chromosome q arm and the possible mechanisms of this rearrangement are discussed. Further the clinical usability of SKY analysis as a molecular cytogenetic tool in searching for genomic instability arising from cytogenetic rearrangements is highlighted.
这是一例通过细胞遗传学和光谱核型分析检测到的X染色体长臂染色体内部三倍体的独特病例，患者为一名21岁的原发性闭经女性，因原发性高促性腺激素性腺功能减退和苗勒管发育不全前来就诊。染色体内部三倍体是罕见的重排，导致部分四体。自1993年以来，至少已报道了34例涉及9条不同染色体的染色体内部三倍体病例。绝大多数报道的三倍体位于第15号染色体上，为新发突变且具有中间反向重复序列。本报告讨论了与X染色体长臂三倍体相关的原发性闭经病例中的基因型-表型相关性以及这种重排的可能机制。此外，还强调了光谱核型分析作为一种分子细胞遗传学工具在寻找由细胞遗传学重排引起的基因组不稳定性方面的临床实用性。
