伴有2q32部分三体直至2q末端的家族性2号与17号染色体易位
Familial translocation 2;17 with partial trisomy 2q32 leads to 2qter.
作者信息
Giliberti P, Celona A, Della Pietra M, De Masi R V, Fioretti G, Pagano L, Renda S, Vetrella A, Ventruto V
出版信息
Ann Genet. 1980;23(4):249-50.
PMID:6971607
Abstract
A case of 2q trisomy in a malformed female infant resulting from unbalanced segregation of maternal origin is reported. The mother and one of the proposita's sibs where found to be carriers of balanced translocation 2;17. Two other members in the kindred had died with multiple malformations. The patient's karyotype was 46,XX,-17, + der (17)t(2;17)(q32;q25)mat.
摘要
报告了一例因母源不平衡分离导致畸形女婴2号染色体三体的病例。发现母亲和先证者的一个兄弟姐妹是2号和17号染色体平衡易位的携带者。家系中的另外两名成员死于多种畸形。患者的核型为46,XX,-17,+der(17)t(2;17)(q32;q25)mat。
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