一名患有多种先天性畸形的儿童，其核型为46,XX,t(Bq+;Dq-)-45,XX,-B,-D,+der(B),t(Bq+;Dq-)
A child with multiple congenital malformations and a 46,XX,t(Bq+;Dq-)-45,XX,-B,-D,+der(B),t(Bq+;Dq-) karyotype.
作者信息
Carnevale A, De los Cobos L
出版信息
J Med Genet. 1973 Dec;10(4):376-9. doi: 10.1136/jmg.10.4.376.
Abstract
A case of a female infant with malformations of upper extremities and mental and growth retardation is reported. The karyotype showed a 46,XX,t(Bq+;Dq−)/45,XX,−B,−D,+der(B),t(Bq+;Dq−) mosaicism. The clinical findings in relation to the long arm deletion of a B-group chromosome are discussed.
摘要
报告了一例患有上肢畸形及智力和生长发育迟缓的女婴病例。核型显示为46,XX,t(Bq+;Dq−)/45,XX,−B,−D,+der(B),t(Bq+;Dq−)嵌合体。讨论了与B组染色体长臂缺失相关的临床发现。
Zotero 插件