邯郸地区Klinefelter综合征的染色体核型分析

目的探讨邯郸地区Klinefelter综合征患者染色体核型分析及其临床特点。方法对疑似Klinefelter综合征患者进行染色体检查,采用外周血淋巴细胞培养并制片,常规G显带,Giemsa染色,进行染色体核型分析和临床分析。结果共检出Klinefelter综合征患者61例,其中典型47,XXY56例,占91.80%,嵌合型47,XXY/46,XY4例,占6.56%;47,XXY,Yqh+1例,占1.64%。结论广泛开展细胞遗传学诊断分析,可以比较准确的检出Klinefelter综合征,对于临床疾病的确诊有重要的意义。     

73例Klinefelter综合征的临床与细胞遗传学分析

目的分析和探讨73例Klinefelter综合征的临床及细胞遗传学分析。方法外周血淋巴细胞培养染色体核型分析。结果 73例Klinefelter综合征中,典型Klinefelter综合征67例,占91.8%;伴有其它染色体异常3例,占4.1%;嵌合型2例,占2.7%;超X型1例,占1.4%。除47,XXY嵌合比例较少的1例外,均有小睾、无精子症状。结论典型Klinefelter综合征为主要类型,小睾、无精子为主要临床表现。     

Klinefelter 综合征的临床与细胞遗传学分析

分析和探讨Klinefelter综合征的，临床以及细胞遗传学特征，通过遗传咨询和染色体核型综合分析进行疾病的诊断。确诊Klinefelter综合征88例，年龄13天-48岁，其中〈1岁3例，占3．4％；1～12岁11例，占12．5％；13～18岁6例，占6．8％；〉18岁68例，占77．3％。睾丸小是Klinefelter综合征最典型的表现。青春发动期以前难以发现。核型为47，XXY（包括变异）77例，占87．5％；嵌合型8例，占9．1％；48，XXYY2例，占2．3％；49，XXXXY1例，占1．1％，细胞遗传学染色体核型分析为确诊的主要手段。     

68例Klinefelter综合征的临床与细胞遗传学分析

目的病例来自于2004年1月-2011年11月来我院就诊的68例Klinefelter综合征患者。对男性不育患者染色体核型及临床表现进行分析,通过分析Klinefelter综合征的细胞遗传学特征及临床特点,深入探讨Klinefelter综合征的产生机理、治疗及生育等问题。方法检查采取常规外周血淋巴细胞培养,制片,G显带,每例计数30个核型,分析3-5个核型,异常者加倍计数、分析。最后使用染色体分析系统成像。结果 68例Klinefelter综合征中,典型Klinefelter综合征64例,占94.1%;伴有其它染色体异常3例,占4.4%;嵌合型1例,占1.5%,除嵌合体为少精外均有小睾、无精子症状。结论细胞遗传学染色体核型分析是确诊Klinefelter综合征的金标准,尽早诊断,及时的治疗对患者提高生活质量,解决婚育问题有着重要的临床意义。     

引物原位标记联合核型分析快速检测克氏综合征

目的探索PRINS技术联合G显带核型分析检测克氏综合征染色体。方法对1034例男性不育患者外周血用常规G显带核型分析方法进行分析,对检出的克氏综合征（Klinefelter综合征）患者用引物原位标记（PRINS）技术进行染色体检测,比较分析染色体异常的检出情况。结果用常规G显带核型分析方法检出核型异常患者134例,核型异常比例为12.96%;其中染色体数目异常70例占异常总数的52.23%（Klinefelter综合征患者56例占41.79%）,余下为染色体结构异常64例占47.77%;采用PRINS技术对Klinefelter综合征患者的染色体进行检测,结果与G显带核型分析结果一致。结论与常规核型分析方法相比,PRINS技术可快速、准确检测染色体数目异常。     

徐州地区性分化异常患者的染色体和临床分析

目的对性分化异常病人的染色体和临床诊断治疗及发病原因进行分析和探讨。方法对339例性分化异常病人进行外周血染色体分析，同时对病史、体检做详细的记录。结果染色体异常321例，占总数的94．69％，其中Klinefelter＇s综合征226例（占66．7％），Turner＇s综合征56例（占16．52％），XXX综合征12例（占3．54％），性反转综合征21例（占6．19％），真两性畸形6例（占1．77％）。非染色体异常18例，占总数的5．31％。结论对性分化异常病人进行染色体检查非常重要，将对临床诊断和治疗有着重要意义。特别是早期检查和分析尤为重要。     

105例无精子症的细胞遗传学研究

本文取自我院105例无精子症患者的外周血，采用常规染色体方法，结果染色体异常发生率为23.8%，其中Klinefelter综合征者14例占13.33%，其次为46，XY（大Y）4例占3.82%，其它各种异常各1例。文内讨论了克氏征与大Y与不育的关系。     

广州地区Klinefelter综合征的临床与细胞遗传学分析

目的 对15例Klinefelter综合征进行分析.方法 外周血淋巴细胞培养染色体核型分析.结果 15例Klinefelter综合征中,典型（47,XXY）占86%,嵌合型（46,XY/47,XXY）占13%,均有不孕或性发育异常的临床表现.结论 男性不育与性发育异常应该行细胞遗传学检查.     

克氏综合征基因表达谱分析

目的 对克氏综合征（Klinefelter syndrome）患者进行基因表达谱分析,探讨其基因差异表达与临床表型之间的关系.方法 采用第二代高通量测序方法对7例克氏综合征患者和7例对照男性外周血全基因组mRNA进行深度测序,运用定量RT-PCR方法对30例克氏综合征患者及30例对照男性进行验证.结果 测序结果根据FDR≤0.001和｜ log2 Ratio≥1 ｜的标准,两组比较存在差异表达基因216个,差异具有统计学意义.其中X染色体基因9个,占4％,与X染色体失活相关的XIST差异表达最明显;常染色体基因207个,占96％,其中NR4A3、ZKSCAN4、HBEGF、EREG、AREG、NR4A2、CCR5差异表达明显.NR4A3主要.与2型糖尿病有关,HBEGF主要参与促性腺激素分泌过程.Y染色体不存在显著差异表达基因.结论 克氏综合征患者不仅多余X染色体基因差异表达,还有大量常染色体基因差异表达,这可能是克氏综合征临床表型多样化的原因.     

Klinefelter综合征伴t(11;12)一例

患者　男,2 6岁,汉族,结婚2年未孕来院就诊。患者自1岁起有高热惊厥史,6岁才能独立行走及说话,智商70。患者身高180cm ,体重65kg ,阴毛及胡须稀少,外生殖器检查正常,双侧睾丸小。精液检查:无精子;细胞遗传学检查:外周血培养,G显带,染色体核型为47,XXY ,t( 11;12 ) ( q2 1;q12 )。其父母拒绝检查。讨论　Klinefelter综合征伴t ( 11;12 )核型经查询未见报道,Klinefelter综合征在人群中的发病率为1/10 0 0 ,染色体易位的发病率为19/10 0 0 ,但两种异常同时发生的几率极小。Klinefelter综合征患者多了一条X染色体,为染色体非整倍体异常。这…     

Primary myelodysplastic syndrome with complex chromosomal rearrangements in a patient with Klinefelter''s syndrome.

A patient with Klinefelter's syndrome and diabetes mellitus was diagnosed as having myelodysplasia. Cytogenetic analysis of the peripheral blood and the bone marrow cells confirmed the presence of a constitutional 47,XXY chromosome complement. In addition, complex karyotypic abnormalities were present.     

Probable de novo 17q duplication (q11.2-->q21.1): a newly recognised chromosomal syndrome in a child with Klinefelter''s syndrome.

A child is described with a previously unreported probable trisomy for a segment of the long arm of chromosome 17 responsible for some distinct clinical features. These include craniofacial and skin abnormalities, failure to thrive, partial malrotation of the gut, malabsorption, gastro-oesophageal reflux, neurodevelopmental delay, autonomic disturbance, and cardiac and CNS abnormalities. The coexistence of Klinefelter's syndrome (47,XXY) is of minor significance in relation to this child's phenotype.     

Graves' disease associated with Klinefelter's syndrome

Klinefelter's syndrome is one of the most common forms of primary hypogonadism and infertility in males. It is characterized by small and firm testes, gynecomastia, azoospermia, and an elevated gonadotropin level. The frequencies of diabetes mellitus, breast cancer, and germ cell neoplasia increases in Klinefelter's syndrome. We report upon a 35 year-old male patient with Graves' disease in association with Klinefelter's syndrome; as confirmed by chromosome analysis. The patient is being treated with antithyroid medication for Graves' disease and by testosterone replacement for Klinefelter's syndrome.     

广东省2234例遗传咨询者染色体分析

目的探讨广东地区遗传性疾病染色体异常分布情况,指导临床对遗传性疾病诊断,减少遗传性疾病的发生。方法对广东地区2234例遗传咨询者,采用淋巴细胞培养染色体常规G显带法进行观察研究。结果2234例遗传咨询者共检出异常核型238例,异常率10.65%,其中Down综合征113例(47.48%),易位25例(10.50%),倒位47例(19.75%),克氏综合征11例(4.62%),Turner综合征10例(4.20%),性逆转综合征9例(3.78%);染色体缺失7例,衍生染色体6例,18(13)-三体共4例,X-三体综合征2例,其他染色体异常4例。结论染色体畸变是儿童智力低下,成人不孕不育、流产,性征异常的一个重要原因,要实现优生优育,必需积极开展遗传咨询,产前检查和产前诊断。     

Hypostatic ulcers in 47,XXY Klinefelter''s syndrome

Hypostatic leg ulcers, probably secondary to vascular insufficiency, were observed in two adult men with 47,XXY Klinefelter's syndrome. The association between leg ulcers and 47,XXY Klinefelter's syndrome deserves increased attention because knowledge of the association may alert clinicians to an otherwise unsuspected chromosome abnormality.     

Klinefelter's syndrome and malignant lymphoma

The high risk for malignancy for carriers of several congenital chromosomal abnormalities is discussed. We report herein a patient with Klinefelter's syndrome associated with a high grade malignant non-Hodgkin lymphoma. Chromosome analysis of PHA-stimulated lymphocytes showed a mosaic of 46,XXY (90%) and normal 46,XY (10%) metaphases. To our knowledge, this is the third reported case of a malignant non-Hodgkin lymphoma in a patient with Klinefelter's syndrome in the literature.     

Birth of a healthy girl after ICSI with ejaculated spermatozoa from a man with non-mosaic Klinefelter's syndrome

Klinefelter's syndrome is a major contributor to male infertility. Recent reports of births after ICSI with especially testicular spermatozoa from infertile men with this syndrome are promising. The birth of a healthy girl after ICSI treatment with ejaculated spermatozoa from a man with non-mosaic Klinefelter's syndrome is reported. The non-mosaic karyotype was confirmed by chromosome analysis of both peripheral blood leukocytes and fibroblasts from a skin biopsy. In conclusion, in a very few cases, men with apparently non-mosaic Klinefelter's syndrome have ejaculated spermatozoa that can result in a birth of a healthy child following ICSI.     

Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study

Mortality and cancer incidence were assessed in a cohort of 1373 patients with numerical sex chromosome abnormalities diagnosed at three cytogenetics centres in Britain during 1959–90, and were compared with expectations from national rates. Four hundred patients with Turner's syndrome were followed, of whom 62 died, with a relative risk (RR) of death of 4.16 (95% confidence interval (CI) 3.22–5.39). Turner's syndrome patients had greatly raised risks of death from diseases of the nervous, cardiovascular, respiratory, digestive and genitourinary systems. One hundred and sixty three deaths occurred among 646 patients with Klinefelter's syndrome with a 47,XXY constitution, giving an RR of 1.63 (1.40–1.91). Mortality in these patients was significantly raised from diabetes and diseases of the cardiovascular, respiratory and digestive systems. There was also significantly increased mortality for patients with X polysomy (RR = 2.11 (1.43–3.02)) and Y polysomy (RR = 1.90 (1.20–2.85)), the former with significantly increased mortality from cardiovascular disease and the latter from respiratory disease. The only significantly raised risks of cancer incidence or mortality in the cohort were for lung cancer and breast cancer in patients with Klinefelter's syndrome with a 47,XXY constitution, and non-Hodgkin's lymphoma in men with more than three sex chromosomes.     

Chromosomes and human infertility. I. Mitotic and meiotic chromosome studies in 202 consecutive male patients

Mitotic and meiotic chromoqome studies in 202 consecutive infertile male patients are reported. From our results and those available from the literature, the following conclusions can be drawn. 1. Mitotic chromosome analysis definitely must be included in the laboratory investigations of male infertility; meiotic studies are recommended, especially in patients with a normal somatic karyo-type and unexplained low sperm counts.
2. About 10% of all patients attending male infertility clinics show a mitotic chromosome abnormality: 6–7% present a Klinefelter's syndrome or its variants, 1–3% have morphological rearrangements of the Y, or sex chromosome mosaicism, and 1–3% present structural autosome rearrangements (translocations, minor variants, etc.). Decreasing sperm counts are associated with an increasing probability of aneuploidy.
3. At present, identified meiotic abnormalities could explain about 2% of male sterilkies in patients with apparently normal somatic chromosomes.     

母血清筛查21三体、18三体阳性病例的产前诊断

目的探讨孕中期母血清筛查21-三体，18-三体阳性病例的染色体异常情况。方法AFP和Free-heG13用美国PE公司的时间分辨免疫荧光分析系统测定，风险值计算21-三体以1／270，18-三体以1／350为切割值。阳性病例进行羊膜腔穿刺羊水细胞培养。结果在54580例产前筛中有2615例为21-三体或18-三体阳性病例，占总筛查人数的4．79％。其中对1161例阳性病例进行了染色体分析（占总阳性数的44．4％）。结果发现29例异常核型，其中21-三体14例，18-三体5例，性染色体异常3例，其他异常核型7例，异常发生率2．49％。结论母血清产前筛查结合羊水诊断能够有效的避免胎儿染色体异常的发生。