[Turner's syndrome in mother and daughter].
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.
Waelkens
J J
JJ
D000328:Adult; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009030:Mosaicism / Q000235:genetics; D011247:Pregnancy; D011248:Pregnancy Complications / Q000209:etiology; D011256:Pregnancy Outcome; D016649:Primary Ovarian Insufficiency / Q000209:etiology / Q000235:genetics; D012307:Risk Factors; D020554:Sperm Injections, Intracytoplasmic / Q000379:methods; D014424:Turner Syndrome / Q000150:complications* / Q000235:genetics*