【摘要】 <正> Turner综合征类型复杂,染色体结构异常的Turner综合征以46,X,i(Xq),和45,X/46,X,i(Xq)类型较多见,国内黄英等曾报告3例(前者),我们于1982年发现2例。更多还原

【Abstract】 In this paper two cases of Turner’s syndrome are reported, and their clinical and cytogenetic features are discussed.When the X-chremesome at the beginning of anaphase, divides transversally instead of langitudinally, the resalt is a metacenteric chromosome involving either homologous long arms or short arms, each cf which unites at the centromere. This iscchromosome usually involves the long p.rms 46,X,i (Xq). In such a case the short arms are completely deleted. This appears to be the most ccmmon structural abnormality of the x-chrcmeseme. The appearance cf streak gonads, short stature, and other Turner stigmas are mcst commonly observed in patients with 46,X,i (Xq) or 45,X/46,X.i (Xq) kary-otype. The patients may also have multiple pigmented naevi.Dermatoglyphic examination shows the total finger ridge count (TFRC), atd angle and a-b ridge count (a-bRC) are all significantly higher than in normal individuals. The simian line occurs in both palms of the patient with 46,X,i (Xq). The elevated frequency cf whcrls is associated with a decrease of loops.更多还原