Maximilian C, Chirică S, Dumitriu L, Ciovîrnache M, Fabritius K, Pană I, Popa M, Ioan D
Endocrinologie. 1983 Oct-Dec;21(4):279-83.
The work presents the clinical and cytogenetic findings in a 16 year-old female-patient with Turnerian phenotype and 46 XX, del(X)(q 13 leads to q ter) caryotype. The authors discuss the difficulties of correlating the caryotype to the phenotype in X chromosome structural aberation cases.
该研究展示了一名16岁具有特纳氏综合征表型且核型为46 XX，del(X)(q 13至q ter)的女性患者的临床和细胞遗传学发现。作者讨论了在X染色体结构畸变病例中将核型与表型相关联的困难。
