MCL Medical Laboratories, Bern, Switzerland.
Fertil Steril. 2010 Jun;94(1):350.e12-5. doi: 10.1016/j.fertnstert.2009.12.040. Epub 2010 Feb 1.
To describe the parental origin and the mechanism of formation of a 46,X,der(X)(pter-->q21.1::p11.4-->pter)[23]/45,X[8] karyotype in a patient with mild Turner syndrome.
Case report.
A university hospital.
PATIENT(S): A 23-year-old woman with normal height, gonadal dysgenesis, and mild Turner stigmata.
INTERVENTION(S): Genotype-phenotype correlation, array-based copy number analysis, fluorescence in situ hybridization with locus-specific probes, and microsatellite marker-mediated haplotype analysis subsequent to whole genome amplification of microdissected chromosomes.
Genotype-phenotype correlation, mechanism of formation, and parental origin.
RESULT(S): Formation in paternal meiosis by refolding in itself and unequal recombination between Xp and Xq were found as the most likely mechanism of formation.
CONCLUSION(S): Formation of der(X) chromosomes in females can be more complex than previously thought. The nearly normal height of this patient could be explained by a combination of trisomy of the Xp-located SHOX gene and mosaicism with a 45,X cell line.
描述一位特纳综合征患者携带的 46,X,der(X)(pter-->q21.1::p11.4-->pter)[23]/45,X[8] 染色体核型的亲本来源和形成机制。
病例报告。
一所大学医院。
一位 23 岁的女性，身高正常，性腺发育不全，特纳综合征特征轻微。
基因型-表型相关性分析、基于阵列的拷贝数分析、荧光原位杂交与基因座特异性探针、以及微切割染色体的全基因组扩增后的微卫星标记介导的单体型分析。
基因型-表型相关性、形成机制和亲本来源。
发现形成该染色体核型的最可能机制是自身折叠和 Xp 与 Xq 之间的非均等重组。
女性中 der(X) 染色体的形成可能比以前认为的更为复杂。该患者的身高基本正常，这可以用 Xp 上 SHOX 基因的三体性和与 45,X 细胞系的嵌合性来解释。
