Chen Chih-Ping, Lin Chyi-Chyang, Li Yueh-Chun, Hsieh Lie-Jiau, Lee Chen-Chi, Wang Wayseen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Fertil Steril. 2006 Nov;86(5):1514.e1-2. doi: 10.1016/j.fertnstert.2006.02.127.
To describe the clinical findings of a patient with a de novo unbalanced X;autosome translocation.
Descriptive case study.
Mackay Memorial Hospital, National Yang-Ming University, China Medical University, China Medical University Hospital, and Chung Shan Medical University.
PATIENT(S): A 33-year-old woman with primary ovarian failure, moderate mental retardation, and mild phenotype of facial dysmorphism.
INTERVENTION(S): None.
MAIN OUTCOME MEASURE(S): Ultrasound, cytogenetic analysis, and laboratory studies of hormones.
RESULT(S): Laboratory studies revealed the following values: FSH level 72.48 mIU/mL (normal women: <40 mIU/mL), LH level 32.87 mIU/mL (normal women: <21 mIU/mL), and E(2) level <20 pg/mL (normal women up to 375 pg/mL), confirming primary ovarian failure. The PRL level was normal. Spectral karyotyping and G-banding cytogenetic analysis revealed a derivative X chromosome containing additional chromosomal material derived from the distal long arm of chromosome 5. The derived chromosome X had break points at Xq27.3 and 5q32, resulting in monosomy Xq (Xq27.3-->qter) and partial trisomy 5q (5q32-->qter). The patient's karyotype was 46,X,der(X)t(X;5)(q27.3;q32). The parental karyotypes were normal.
CONCLUSION(S): This is the first report of partial monosomy Xq (Xq27.3-->qter) and partial trisomy 5q (5q32-->qter). The present case provides evidence for the occurrence of primary ovarian failure and mental retardation in females with unbalanced X;autosome translocations.
描述一名新发X染色体与常染色体不平衡易位患者的临床特征。
描述性病例研究。
中国台湾地区台北市马偕纪念医院、国立阳明大学、中国医药大学、中国医药大学附设医院及中山医学大学。
一名33岁女性，患有原发性卵巢功能衰竭、中度智力障碍及轻度面部畸形表型。
无。
超声检查、细胞遗传学分析及激素实验室检查。
实验室检查结果如下：促卵泡激素（FSH）水平72.48 mIU/mL（正常女性：<40 mIU/mL），促黄体生成素（LH）水平32.87 mIU/mL（正常女性：<21 mIU/mL），雌二醇（E₂）水平<20 pg/mL（正常女性可达375 pg/mL），确诊为原发性卵巢功能衰竭。催乳素（PRL）水平正常。光谱核型分析和G显带细胞遗传学分析显示，一条衍生X染色体包含来自5号染色体长臂远端的额外染色体物质。衍生X染色体的断裂点位于Xq27.3和5q32，导致Xq单体（Xq27.3→qter）和5q部分三体（5q32→qter）。患者的核型为46,X,der(X)t(X;5)(q27.3;q32)。其父母核型正常。
这是关于Xq部分单体（Xq27.3→qter）和5q部分三体（5q32→qter）的首例报告。本病例为不平衡X；常染色体易位女性发生原发性卵巢功能衰竭和智力障碍提供了证据。
