Portnoï Marie-France, Chantot-Bastaraud Sandra, Christin-Maitre Sophie, Carbonne Bruno, Beaujard Marie-Paule, Keren Boris, Lévy Jonathan, Dommergues Marc, Cabrol Sylvie, Hyon Capucine, Siffroi Jean-Pierre
Service de Génétique et Embryologie médicales, Hôpital Armand Trousseau, APHP, UPMC, France.
Eur J Med Genet. 2012 Nov;55(11):635-40. doi: 10.1016/j.ejmg.2012.07.001. Epub 2012 Jul 15.
Spontaneous fertility is rare among patients with Turner syndrome and is most likely in women with mosaicism for a normal 46,XX cell line. We report an unusual case of familial Turner syndrome with mosaicism for a novel X;Y translocation involving Xp and Yp. The chromosomal analysis was carried out through cytogenetics and molecular karyotyping using a SNP array platform. The mother, a Turner syndrome woman, diagnosed in midchildhood because of short stature, was found to have a 45,X/46,X,der(X)t(X;Y)(p11.4;p11.2) karyotype, with a predominant 45,X cell line. Her parents decided against prophylactic gonadectomy, generally recommended at an early age when Y chromosome has been identified, because at age 13, she had spontaneous puberty and menarche. She reached a final height of 154 cm after treatment with growth hormone. At age 24, she became spontaneously pregnant. She had a mild aortic coarctation and close follow-up cardiac evaluation, including cardiac magnetic resonance imaging, had been performed during her pregnancy, which progressed uneventfully, except for intra-uterine growth retardation. Prenatal diagnosis revealed a female karyotype, with transmission of the maternal translocation with an unexpected different mosaic:47,X,der(X)t(X;Y)x2/46,X,der(X)t(X;Y) karyotype. This complex and unusual karyotype, including a mosaic partial trisomy X and a non-mosaic Xpter-Xp11.4 monosomy, results in transmission of Turner syndrome from mother to daughter. At birth, the girl had normal physical examination except for growth retardation. This family illustrates the complexity and difficulties, in term of patient counseling and management in Turner syndrome, in determining ovarian status, fertility planning, risks associated with pregnancies, particularly when mosaicism for Y material chromosome is identified.
特纳综合征患者自然受孕的情况很少见，最有可能发生在具有正常46,XX细胞系嵌合体的女性中。我们报告了一例罕见的家族性特纳综合征病例，其具有涉及Xp和Yp的新型X;Y易位嵌合体。通过细胞遗传学和使用SNP阵列平台的分子核型分析进行染色体分析。母亲是一名特纳综合征女性，童年中期因身材矮小被诊断出，其核型为45,X/46,X,der(X)t(X;Y)(p11.4;p11.2)，以45,X细胞系为主。她的父母决定不进行预防性性腺切除术，这在早期发现Y染色体时通常是推荐的，因为在13岁时她自然进入青春期并初潮。经过生长激素治疗后，她最终身高达到154厘米。24岁时，她自然受孕。她有轻度主动脉缩窄，孕期进行了密切的心脏评估，包括心脏磁共振成像，除了胎儿宫内生长受限外，孕期进展顺利。产前诊断显示为女性核型，母亲的易位发生传递，但出现了意想不到的不同嵌合体：47,X,der(X)t(X;Y)x2/46,X,der(X)t(X;Y)核型。这种复杂且不寻常的核型，包括嵌合性部分三体X和非嵌合性Xpter-Xp11.4单体，导致特纳综合征从母亲传给女儿。出生时，女孩除了生长迟缓外，体格检查正常。这个家庭说明了在特纳综合征患者咨询和管理方面，在确定卵巢状态、生育计划、妊娠相关风险方面的复杂性和困难，特别是当识别出Y物质染色体嵌合体时。
