Marcus-Soekarman D, Hamers G, Mulder A L M, Offermans Jeanne, Offermans Jos, Engelen J, van Lent-Albrechts J C M, Robben S G F, de Muinck Keizer-Schrama S, Wolffenbuttel K P, Looijenga L H J, Oosterhuis J W, Schrander-Stumpel C, Nijhuis J
Department of Clinical and Cytogenetics, University Hospital, Maastricht, The Netherlands.
Prenat Diagn. 2005 Apr;25(4):279-82. doi: 10.1002/pd.996.
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.
如今，改进后的超声技术能够在胎儿发育的更早阶段检测出更细微的先天性异常。当前的细胞遗传学技术可以更详细地描述染色体异常情况。这两种诊断可能性的进步有助于回答许多问题，但也在咨询方面产生了新的问题和困境。一名35岁女性的病例报告说明了这一点，她在首次怀孕的孕中期末前来就诊。超声检查显示一名男性胎儿的外生殖器异常。做出了尿道下裂的鉴别诊断。在随访期间，进行了羊膜穿刺术，结果显示45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter)核型是超声检查结果的原因。报告了等臂双着丝粒Y染色体的细胞遗传学特征以及该患儿的产前和产后检查结果。对文献中报道的具有相似核型的病例进行了综述。
