Romain D R, Columbano-Green L M, Parfitt R G, Chapman C J, Smythe R H, Gebbie O B
Clin Genet. 1985 Aug;28(2):166-72. doi: 10.1111/j.1399-0004.1985.tb00378.x.
A 32-year-old mentally retarded woman was found to have a complex rearrangement of one chromosome 4. Her karyotype is interpreted as 46,XX,inv(4) (pter----p14::q12----p14::q12----qter) del (4) (pter----15.33::p15.2----qter). Clinically she does not show the features of the Wolf-Hirschhorn syndrome. Her phenotype and cytogenetic findings are compared with 2 other reported cases of 4p-without Wolf-Hirschhorn syndrome.
一名32岁的智障女性被发现有一条4号染色体的复杂重排。她的核型被解释为46,XX,inv(4)(pter----p14::q12----p14::q12----qter) del(4)(pter----15.33::p15.2----qter)。临床上她没有表现出Wolf-Hirschhorn综合征的特征。将她的表型和细胞遗传学结果与另外2例报道的无Wolf-Hirschhorn综合征的4p缺失病例进行了比较。
