Lønberg N C, Erlendsson J, Nielsen J, Saldaña-Garcia P, Philip J
Hum Genet. 1977 Aug 31;38(1):49-55. doi: 10.1007/BF00295807.
A female with 46,X,i(Yq) in all cells and a survey of previous cases of isochromosome Yq is presented. She was first admitted to hospital 15 years old due to nanismus and retarded sexual development. Gonadal dysgenesia was observed, and the diagnosis 'atypical Turner's syndrome' was applied. The patient, who presents only a few Turner stigmata, has been given cyclic estrogen treatment since the age of 16. She has developed normal secondary sex characteristics, cyclic bleedings and has attained normal height (161 cm). Since the age of 18 the patient has suffered various periods of anemia caused by gastrointestinal hemorrhage. This hemorrhage is probably due to intestinal teleangiectasiae which are found with increased frequency in patients with Turner's syndrome.
报告了一名所有细胞均为46,X,i(Yq)的女性以及对既往等臂染色体Yq病例的调查。她15岁时因身材矮小和性发育迟缓首次入院。观察到性腺发育不全，诊断为“非典型特纳综合征”。该患者仅表现出少数特纳综合征体征，自16岁起接受周期性雌激素治疗。她已发育出正常的第二性征，有周期性出血，身高达到正常水平（161厘米）。自18岁起，该患者因胃肠道出血经历了多个贫血期。这种出血可能是由于肠道毛细血管扩张，在特纳综合征患者中发现的频率增加。
