[Association between Y chromosome microdeletions and tes-ticular development in male pediatric patients with congenital reproductive system diseases]. [PDF]
Zhejiang Da Xue Xue Bao Yi Xue BanLiang Y +5 more
europepmc +1 more source
Zhongguo shiyan zhenduanxue目的 探究联合改良骨髓染色体制备方法和荧光原位杂交(FISH)技术，分析其在恶性血液病特别是在慢性粒细胞白血病(CML)中的临床应用价值。方法 收集2019年1月至2022年6月来清远市人民医院就诊的355例恶性血液病患者作为研究对象，首先抽取16例患者的骨髓细胞对骨髓染色体制备的接种浓度、秋水仙碱浓度、时间和低渗等进行改良，优化后对培养时间进行单因素方差分析，按照不同培育时间(16 h、20 h、24 h和28 h)将每例平均分成A、B、C和D 4组；最后用改良方法对所有患者进行骨髓染色体核型分析 ...
李付广 +6 more
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[Autosomal dominant intellectual developmental disorder 60 with seizures: a case report]. [PDF]
Zhongguo Dang Dai Er Ke Za ZhiSun YY, Liu H, Liu M, Mei SY, Ma YL.
europepmc +1 more source
[Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review]. [PDF]
Zhongguo Dang Dai Er Ke Za ZhiLi CY +7 more
europepmc +1 more source
[Clinical and genetic analysis of autosomal dominant polycystic liver disease]. [PDF]
Zhonghua Gan Zang Bing Za ZhiSu LS, Liu N, Kong XD.
europepmc +1 more source
Genetic analysis of <i>UMOD</i> gene mutation in autosomal dominant tubulointerstitial kidney disease. [PDF]
Zhong Nan Da Xue Xue Bao Yi Xue BanZhang Y +5 more
europepmc +1 more source
[APL-like leukemia with chromosomal translocation t(16;17): a case report and literature review]. [PDF]
Zhonghua Xue Ye Xue Za ZhiWang Q, Lyu TX, Ai H, Lyu XD, Yin QS.
europepmc +1 more source
[Amplification of Extrachromosomal Oncogene and Tumorigenesis and Development]. [PDF]
Zhongguo Fei Ai Za Zhi, 2020 Wang Y +6 more
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Zhongshan Daxue xuebao. Yixue kexue ban, 2011 【目的】 探讨多发畸形胎儿的产前诊断特征及其与染色体异常的关系。【方法】 对853例产前诊断胎儿进行研究，根据超声检测检出多发畸形与否，分为多发畸形组(n = 103)及非畸形组(对照组,n = 750)，行常规染色体核型分析；收集相关临床资料：分析胎儿畸形超声发现时期、畸形类别、畸形数目、染色体异常率和异常类型以及染色体异常与多发畸形的相关性。【结果】 两组胎儿比较，染色体异常率(多发畸形组43.69%，对照组0.93%)，性别比(多发畸形组1.94，对照组0.97)，产前诊断孕周[多发畸形组(25 ±
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