Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21

Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.     

大熊猫与熊类动物性别的分子鉴定

根据已知动物的性别决定因子基因序列设计引物,以非性别特异性的脑源性神经营养因子基因片段（ＢＤＮＦ）作为正对照,用于扩增大熊猫、浣熊、天山棕熊和马来熊个体的ＳＲＹ（ｓｅｘｄｅｔｅｒｍｉｎｉｎｇｒｅｇｉｏｎｏｎＹｃｈｒｏｍｏｓｏｍｅ）基因片段并对其进行凝胶电泳分析,由此建立了一套简单、快速、可靠的动物性别分子鉴定方法．该方法不仅有利于尽快确定大熊猫等珍稀濒危动物的性别,而且也可以用于野外种群的性别比例调查．     

Sonographic genital ambiguity in a fetus due to a mosaic 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype

Nowadays, improved ultrasound techniques enable the detection of more subtle congenital abnormalities at an earlier stage of fetal development. Current cytogenetic techniques can characterize a chromosomal abnormality in greater detail. These advancements in both diagnostic possibilities have helped to answer many questions but have also created new issues and dilemmas in counselling. This is illustrated by this case report of a 35-year-old woman, who presented at the end of the second trimester of her first pregnancy. Sonographic examination indicated an abnormal external genital in a male fetus. A differential diagnosis of hypospadia was made. During follow-up, an amniocentesis was performed, and this showed a 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype as the cause of the sonographic findings. Cytogenetic characterization of the isodicentric Y chromosome and pre- and post-natal findings in the child are reported. Cases with a similar karyotype reported in the literature are reviewed. Copyright © 2005 John Wiley & Sons, Ltd.