Waelkens J J
Ned Tijdschr Geneeskd. 2004 Jun 12;148(24):1208-10.
A girl with Turner's syndrome due to a 45,X mosaicism and a ring chromosome was born to a 29-year-old mother with a non-mosaic 45,X in her blood lymphocytes. Cytogenetic investigation revealed that the ring chromosome of the daughter included almost the entire X chromosome with the exception of the uppermost part of the short arm. In the literature, girls with Turner's syndrome are said to have functional ovarian tissue and pregnancies in women with Turner's syndrome after oocyte donation and intracytoplasmatic sperm injection (ICSI) are no longer exceptional. However, since ovarian failure occurs relatively early during adolescence, cryopreservation of ovarian tissue should be considered as soon as the girl or her parents are able to make the necessary decisions. On the other hand, beside risks for congenital anomalies in the newborn, the risks of pregnancies in Turner's syndrome should not be neglected, notably premature delivery due to disproportion between the pelvis and the foetus and aortic dissection in the pregnant woman.
一名患有特纳综合征的女孩出生,其病因是45,X嵌合体和一条环状染色体,母亲29岁,血液淋巴细胞核型为非嵌合型45,X。细胞遗传学研究显示,女儿的环状染色体几乎包含了整个X染色体,但短臂的最上端除外。文献报道,患有特纳综合征的女孩据说具有功能性卵巢组织,卵母细胞捐赠和卵胞浆内单精子注射(ICSI)后特纳综合征女性怀孕已不再罕见。然而,由于卵巢衰竭在青春期相对较早发生,一旦女孩或其父母能够做出必要决定,就应考虑卵巢组织冷冻保存。另一方面,除了新生儿先天性异常的风险外,特纳综合征患者怀孕的风险也不应被忽视,尤其是由于骨盆与胎儿比例失调导致的早产以及孕妇主动脉夹层。