Turner syndrome: a cytogenetic and molecular study
Turner syndrome: a cytogenetic and molecular study
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DOI：
10.1017/s0003480097006507
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发表时间：
1997-11-01
影响因子：
1.9
通讯作者：
Skuse, D
中科院分区：
文献类型：
--
作者：
Jacobs, P;Dalton, P;Skuse, D
对211例临床诊断为特纳综合征的患者进行了研究。我们报告(i)细胞遗传学结果，（ii）隐嵌合体的频率和（iii）父母年龄和父母异常的来源。WE：对100个血培养细胞进行评分，发现97例患者具有45、X构成，15例为45、X/46、XX或45、X/47、XXX镶嵌，86例具有X结构异常，13例具有Y染色体结构异常。分子方法用于寻找45，x体质患者的隐性X和Y染色体嵌合体。检测到两个隐性X嵌合体，但未检测到隐性Y嵌合体。在45名X名患者中，有74%的X名患者是母系血统。i(Xq)s几乎同样可能涉及父亲或母亲染色体，而大多数缺失和环以及几乎所有异常的Y染色体都起源于父亲。我们认为，特纳综合征中父亲错误的优势可能是由于在父亲mel I期间，XY二价的大部分没有配对，这可能使性染色体在雄性配子体发生期间特别容易受到结构和非分离错误的影响。
Two hundred and eleven patients with a clinical diagnosis of Turner syndrome were studied. We report (i) the cytogenetic results, (ii) the frequency of cryptic mosaicism and (iii) the parental age and the parental origin of the abnormality. WE: scored 100 cells from blood cultures and found 97 patients to have a 45,X constitution, 15 to be 45,X/46,XX or 45,X/47,XXX mosaics, 86 to have a structurally abnormal X and 13 to have a structurally abnormal Y chromosome. Molecular methods were used to look for cryptic X and Y chromosome mosaicism in patients with a 45,X constitution. Two cryptic X but no cryptic Y mosaics were detected. In 74% of the 45,X patients the X was maternal in origin. The i(Xq)s were approximately equally likely to involve the paternal or maternal chromosome, while the majority of deletions and rings and virtually all the abnormal Y chromosomes were paternal in origin. We suggest that the preponderance of paternal errors in Turner syndrome may result from the absence of pairing along the greater part of the XY bivalent during paternal mel I, which may make the sex chromosomes particularly susceptible to both structural and nondisjunctional errors during male gametogenesis.