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首页> 外文期刊>Case Reports in Genetics >Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome
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Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome

机译：48，XXYY / 47，XYY综合征患者的认知，情感问题和肾脏交叉异位

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Klinefelter syndrome is the most common sex chromosome abnormality (SCA) in infertile patients and 47,XXY genomic configuration constitutes most of the cases. However, additional Xs and/or Y such as 48,XXYY, 48,XXXY, and 47,XYY can occur less frequently than 47,XXY. Those configurations were considered as variants of Klinefelter syndrome. In this report, we present an infertile man with tall stature and decreased testicular volume. Semen analysis and hormonal evaluation supported the diagnosis of nonobstructive azoospermia. Genetic investigation demonstrated an abnormal male karyotype with two X chromosomes and two Y chromosomes consistent with 48,XXYY(17)/47,XYY (13). Additionally, the patient expressed cognitive and affective problems which were documented by psychomotor retardation and borderline intelligence measured by an IQ value between 70 and 80. Systemic evaluation also revealed cross ectopy and malrotation of the right kidney in the patient. The couple was referred to microtesticular sperm extraction (micro-TESE)/intracytoplasmic sperm injection (ICSI) cycles and preimplantation genetic diagnosis (PGD). To the best of our knowledge, this is the first report of combination of XYY and XXYY syndromes associated with cognitive, affective dysfunction and renal malrotation.
机译：Klinefelter综合征是不育症患者中最常见的性染色体异常（SCA），并且47，XXY基因组构型构成了大多数病例。但是，与47，XXY相比，诸如48，XXYY，48，XXXY和47，XYY之类的其他X和/或Y的出现频率可能较低。这些构型被认为是克莱氏综合征的变体。在本报告中，我们介绍了一个身材高大且睾丸体积减少的不育男人。精液分析和荷尔蒙评估支持非阻塞性无精子症的诊断。遗传研究表明，具有两个X染色体和两个Y染色体的异常男性核型与48，XXYY（17）/ 47，XYY（13）一致。此外，该患者还表现出认知和情感问题，这些问题由精神运动发育迟缓和边缘智力（由智商在70至80之间的智商值来衡量）证明。系统评估还显示患者的右肾交叉异位和畸形。这对夫妇被称为微睾丸精子提取（micro-TESE）/胞浆内精子注射（ICSI）周期和植入前遗传学诊断（PGD）。据我们所知，这是首次将XYY和XXYY综合征与认知，情感功能障碍和肾功能不全相关联的报道。

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