一名患有智力障碍/多先天性异常综合征及皮肤色素沉着异常的儿童中18号染色体的三重结构嵌合体。
Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation.
作者信息
Bocian E, Mazurczak T, Buława E, Stańczak H, Rowicka G
机构信息
Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland.
出版信息
J Med Genet. 1993 Jul;30(7):614-5. doi: 10.1136/jmg.30.7.614.
A case of triple mosaicism involving chromosome 18 is described in a girl with abnormal skin pigmentation similar to hypomelanosis of Ito. The karyotype is 46,XX, -18, + del(18)(p11.23-->pter)/46,XX, -18, + idic(18)(p11.23)/46,XX, -18, + r(18). The patient displays some clinical features of monosomy 18p and a few signs of trisomy 18q. Our case illustrates a non-random association of chromosomal mosaicism with abnormal skin pigmentation.
一名患有类似伊藤色素减退症的皮肤色素沉着异常的女孩被诊断出患有涉及18号染色体的三重嵌合体病例。其核型为46,XX, -18, + del(18)(p11.23→pter)/46,XX, -18, + idic(18)(p11.23)/46,XX, -18, + r(18)。该患者表现出一些18p单体的临床特征和一些18q三体的体征。我们的病例说明了染色体嵌合体与皮肤色素沉着异常之间的非随机关联。
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