Kovaleva N V, Butomo I V, Verlinskaia D K, Il'iashenko T N, Pantova I G, Prozorova M V, Khitrikova L E, Shandlorenko S K
D. O. Ott Institute of Obstetrics and Cynaecology, Russian Academy of Medical Sciences, Medico-Genetical Centre, and Medical Academy of Postdiploma Education, St. Petersburg.
Tsitologiia. 1999;41(12):1014-21.
These data have been collected from St. Petersburg Down Syndrome Register that comprises information on 1778 liveborn children with the Down syndrome, including three twin sets, ascertained within 1970-1996. Karyotypes were obtained in 1223 cases, of which 1119 (90.7%) displayed regular trisomy. Mosaicism was found in 44 cases (3.6%), including 21 males and 24 females, and among these one familial case of mosaicism in a daughter and in a healthy mother. Of 70 cases of translocations, 41(5.7%) were Robertsonian D ones. 21 (17 inherited, 16 de novo and 8 of unknown origin), 28 translocations of isochromosomes 21q; 21q (1 inherited translocation 21; 22, 22 de novo and 5 of unknown origin). One child received the anomaly from his 46XX/45XX, t(D;G) mother-carrier. In 6 cases, free trisomy 21 was associated with structural or numerical anomalies: 46XY,t(13;14)mat + 21 in twins, 47XY,t(C;C) + 21, 47XY,t(10;15)pat + 21, 47XY,inv(19)mat + 21, 47XX + 21/48XX + 21 + ring, 48XXX + 21. In 12 families parental mosaicism was shown or suspected. In 6 families one parent had chromosome anomaly, in three cases it was not inherited: t(15;22) and t(6;21) in mothers and an additional small marker in a father. In cases confirmed cytogenetically an increased sex ratio was shown (679 males and 551 females, SR = 1.23), but it was not shown in patients not tested cytogenetically (264 males and 275 females, SR = 0.96, different from the expected 297 males and 242 females, P < 0.01).
这些数据收集自圣彼得堡唐氏综合征登记处，该登记处包含1970年至1996年间确诊的1778例唐氏综合征活产儿的信息，其中包括3对双胞胎。1223例进行了核型分析，其中1119例（90.7%）显示为典型三体。发现44例（3.6%）为嵌合体，包括21例男性和24例女性，其中有1例女儿和健康母亲的家族性嵌合体病例。在70例易位病例中，41例（5.7%）为罗伯逊易位。21例（17例遗传、16例新发和8例来源不明），28例21号等臂染色体易位；21q（1例遗传易位21；22，22例新发和5例来源不明）。1名儿童从其46XX/45XX，t（D；G）携带者母亲处遗传了该异常。6例中，游离三体21与结构或数目异常相关：双胞胎中的46XY，t（13；14）mat + 21，47XY，t（C；C）+ 21，47XY，t（10；15）pat + 21，47XY，inv（19）mat + 21，47XX + 21/48XX + 21 + 环状染色体，48XXX + 21。12个家庭显示或怀疑存在父母嵌合体。6个家庭中，一方父母有染色体异常，3例未遗传：母亲的t（15；22）和t（6；21），以及父亲的一个额外小标记染色体。经细胞遗传学确诊的病例显示性别比增加（679例男性和551例女性，SR = 1.23），但未进行细胞遗传学检测的患者中未显示此情况（264例男性和275例女性，SR = 0.96，与预期的297例男性和242例女性不同，P < 0.01）。
