因家族性平衡易位导致的45条染色体的智力发育迟缓，核型为45,XX,--5,--14,+der(5) t(5,14)(p15;q13)，源自母亲。
Mental retardation with 45 chromosomes 45,XX,--5,--14,+der(5) t(5,14)(p15;q13) mat due to familial balanced reciprocal translocation.
作者信息
Fried K, Tieder M, Beer S, Rosenblatt M, Krespin H I
出版信息
J Med Genet. 1977 Feb;14(1):68-72. doi: 10.1136/jmg.14.1.68.
Abstract
A girl with severe mental retardation and odd facies and some features of the cri-duchat syndrome was found to have only 45 chromosomes. Her karyotype was 45,XX, -5, -14,+der(5) t(5,14)(p15;q13) mat. Her mother and her two sisters were found to be balanced reciprocal translocation carriers having 46 chromosomes, one of which was a very small (14pter leads to 14q13::5p15leads to 5pter) that was missing in the proposita.
摘要
一名患有严重智力发育迟缓、面容奇特且具有猫叫综合征某些特征的女孩被发现仅有45条染色体。她的核型为45,XX, -5, -14,+der(5) t(5,14)(p15;q13) mat。她的母亲和两个姐妹被发现是平衡易位携带者，有46条染色体，其中一条非常小（14号染色体短臂末端至14q13::5号染色体短臂末端至5号染色体短臂末端），而在该患者中缺失。
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