Molecular cloning of a novel human gene (SIRP-B2) which encodes a new member of the SIRP/SHPS-1 protein family

A full-length cDNA encoding a novel protein was isolated and sequenced from a human placental cDNA library. This cDNA consists of 1735 base pairs and has a predicted open reading frame (ORF) encoding 354 amino acids. It possesses a putative signal sequence, a long extracellular domain, a transmembrane region, a short intracellular domain, and no catalytic domain, which is highly homologous to signal-regulatory protein (SIRP)-β, suggesting that it seems to be a new member of the SIRP family. Polymerase chain reaction (PCR)-based mapping with both a monochromosomal hybrid panel and radiation hybrid cell panels placed the gene to human chromosome 20p13 near the marker D20S906. Received: August 11, 2000 / Accepted: September 21, 2000     

Partial trisomy 6p and partial monosomy 9p from a de novo translocation 46, XY, -9, + DER(9)T(6:9)(p211:p24)

This report describes an adult male with a partial trisomy 6p(p211-pter) and a partial monosomy 9p(9p24-pter) resulting from a de novo unbalanced translocation. This patient does not show the classical featured of the 9p partial monosomy syndrome, thus disputing the claim of Hoo et al. (1982) that 9p24 is the critical segment for the monosomy syndrome. Partial trisomy for 6p has only been previously reported in children. In addition to the chromosomal anomalies, the patient has autosomal recessive spinal muscular atrophy with a different age of onset than two affected sibs. Finally, he shows unusual audiologic and ophthalmologic signs nor previously reported as part of the 9p monosomy or 6p trisomy syndromes.     

Klinefelter's syndrome with a 47, XXY, inv (12) (q15q24) karyotype

A case of Klinefelter's Syndrome with a paracentric inversion in chromosome 12 is described. The karyotype was determined to be 47, XXY, inv(12)(q15q24) and the significance of the breakpoints on chromosome 12 is discussed.     

A second field metachronous Merkel cell carcinoma of the lip and the palatine tonsil confirmed by microarray-based comparative genomic hybridisation

Merkel cell carcinoma was diagnosed in a 79-year-old Caucasian woman. The tumour was localised to the upper lip and was in stage T2. After successful cryosurgery and a 7-year tumour-free period, a new tumour developed in her palatine tonsil. Histologically and immunohistochemically, this resembled the tumour in the lip. The regional lymph nodes were devoid of metastasis. The paraffin-embedded material of the two tumours and the unaffected lymphatic tissue were analysed with DNA microarrays for comparative genomic hybridisation to assess the genetic relationship of the tumours. In both tumours, regions on 2p and 10p were commonly over-represented, while 41 regions on chromosomes 1–4, 6, 8–9, 11 and 14–22 were commonly under-represented. Chromosomes 1, 3, 4, 16–18 and X were most frequently involved in the DNA losses. In gene copy numbers in the two tumours, 31 chromosome locations were found to be differently affected. The partly similar and partly different molecular patterns indicated a genetic relationship between the tumours and excluded the possibility that the tonsillar tumour was a metastasis. The findings suggest that a genetically altered field was the reason for the development of the tonsillar cancer; thus, it can be regarded pathogenetically as a second field tumour.     

193例遗传咨询病例外周血染色体分析

分析遗传咨询病例１９３人的外周血染色体，发现异常核型２２例，占１１．４％，其中常染色体异常１５例，性染色体异常７例。就诊原因以不良孕产史占多数（６０．１％），智能低下及发育异常次之（２４．９％）。在所发现的２２例异常核型中，以智能低下及发育异常所占的比例最高（２２．９％），性发育异常次之（１８．２％）。     

A fourth case of ring chromosome 7

An 8-year-old child with a ring chromosome 7 is presented, the first female and the fourth such individual to be described. The associated anomalies were rather benign: she presented with short stature, minor skeletal alterations, and normal intelligence. The only truly striking feature was the presence of multiple large, pigmented naevi, suggestive of a hamartomatous origin, but unlike those typical of any particular syndrome. Though other ring 7 patients have had naevus flammeus, and one had cafk-au-lait spots, our proband is the first with an anomaly of chromosome 7 to have such extensive lesions. These four cases of ring 7, which show great phenotypic variation, are reviewed, and the clinical presentation of the proband is also compared with that of patients suffering from terminal, interstitial and translocation-derived 7p and 7q deletions. The formation and behaviour of ring chromosomes are discussed, as are the cytogenetic factors which may influence their phenotypic expression.     

16例染色体异常核型分析

目的与方法本文对189例自然流产、闭经、发育不全患者进行细胞遗传学检查,结果发现异常核型16例,异常核型涉及1、3、4、5、6、7、8、9、10、 15、X、Y染色体.其中平衡易位10例,性染色体异常3例,大Y染色体3例.结论染色体异常是导致流产、闭经、性发育异常的重要遗传因素,应引起临床医师的高度重视.     

Interstitial deletion in the long arm of chromosome no. 5

A case of a male infant with several congenital anomalies combined with an interstitial deletion of the long arm of chromosome no. 5 is presented. The symptoms of the infant were compared to five previous reported cases with similar interstitial deletions in 5q.     

广西地区50 975例孕妇无创产前筛查分析

目的探讨无创产前筛查(NIPS)在胎儿染色体非整倍体异常(CAA)及全基因组拷贝数变异(CNV)筛查中的临床应用价值。 方法选择2018年1月至2019年12月,广西壮族自治区60余家医疗机构采集血液样本后送至本院完成NIPS的50 975例单胎孕妇为研究对象。其分娩年龄为13~54岁,高龄孕妇(分娩时年龄≥35岁)为17 216例(33.77%),血样标本采集时,孕龄为10~36孕周。根据血清学筛查结果、孕妇年龄、妊娠史/家族史,将其分为高风险组[n＝22 852,血清学筛查结果高风险(+)、高龄孕妇(+)、不良孕产史/家族史者纳入(+),至少满足其中一项者],中风险组[n＝4 584,血清学筛查结果中风险/临界风险(+)、胎儿超声检查软指标异常(+),至少满足二者之一者]和低风险组(n＝23 539,无上述风险因素者)。对于NIPS提示高风险者,采用介入性产前诊断,进行胎儿G显带染色体核型分析及染色体微阵列分析(CMA)。本研究经广西壮族自治区妇幼保健院伦理委员会批准(审批文号：桂妇保院医伦审[2020]9-2号)。 结果①50 975例接受NIPS孕妇中,702例NIPS筛查结果显示高风险,高风险率为1.38%。其中21-、18-、13-三体高风险率分别为0.34%(175/50 975)、0.13%(67/50 975)和0.12%(63/50 975),性染色体非整倍体异常(SCA)高风险率为0.40%(205/50 975),罕见染色体数目异常(RCA)高风险率为0.19%(96/50 975),基因组拷贝数变异(CNV)高风险率为0.19%(96/50 975)。②在702例NIPS高风险者中,对555例(79.06%)孕妇进行胎儿染色体核型分析和(或)CMA,93例(16.76%)拒绝进行产前诊断,42例(7.57%)因为流产或已引产而未进行产前诊断,NIPS结果为高风险孕妇的失访率为1.71%(12/702)。555例接受介入性产前诊断的胎儿中,271例阴性胎儿的NIPS和介入性产前诊断结果基本一致,284例假阳性中,16例胎儿的介入性产前诊断结果为染色体异常,但与NIPS高风险结果不一致。③21-三体、18-三体、13-三体、SCA、RCA和CNV的阳性预测值分别为85.09%(137/161)、57.14%(28/49)、16.67%(9/54)、42.31%(66/156)、5.56%(4/72)和42.86%(27/63)。④16例经介入性产前诊断未检测到NIPS所提示的高风险结果,却检测到其他异常结果。其中,4例21-三体高风险胎儿中,3例检测到CNV,1例为21号染色体复杂的结构变异;1例18-三体高风险胎儿中,染色体核型分析结果提示为21-三体;2例13-三体高风险胎儿中,1例为染色体结构变异的嵌合体,另1例为CNV;3例SCA高风险和2例RCA高风险胎儿中,均检测到其他染色体的CNV;4例CNV高风险胎儿中,1例检测到47,XYY,3例为其他染色体的CNV异常。 结论NIPS对于21-、18-、13-三体等常见CAA的筛查具有较高临床实际应用价值。NIPS对于性染色体单体、RCA及CNV的筛查阳性预测值偏低,但是结合产前超声等相关检查,可为遗传咨询和进一步介入性产前诊断提供依据。     

微核试验制片方法的改进

目的简化、优化微核试验方法。方法对微核试验的制片过程进行简化、优化,改进后在细胞培养结束后直接吸弃上清液,然后加入氯化钾溶液进行低渗处理,随后预固定、离心。离心完成后,细胞再固定一次即可滴片。结果改进法玻片背景清晰,细胞染色稍深,但不影响细胞和微核观察。双核细胞数量不少,能够满足计数要求。油镜和高倍镜下,图像更清楚、背景更干净。改进法胞浆完整率、细胞着色率和平均每高倍视野细胞个数与传统方法比较有统计学意义,概率P值分别为0.0051(χ²=7.8375)、0.0140(χ²=6.0437)和0.0025(t=3.0951)。微核细胞率和细胞成团指数与传统方法比较无统计学意义,概率P值分别为0.7749(χ²=0.0817)和0.5152(U=0.0000)。结论改进法制片方法简单易行、结果可靠,试验质量更容易控制,还节省了时间,节省了人力、物力。