米勒 - 迪克尔关键区域定位于17号染色体短臂13.3区中靠近D17S34基因座（p144D6）的近端位置。

Localization of the Miller-Dieker critical region is proximal to locus D17S34 (p144D6) in 17p13.3.

作者信息

Schwartz C E, Sauer S M, Brown A M, Divelbiss J E, Patil S R

机构信息

Greenwood Genetic Center, South Carolina 29646.

出版信息

Genomics. 1990 Aug;7(4):621-4. doi: 10.1016/0888-7543(90)90208-c.

DOI:10.1016/0888-7543(90)90208-c

PMID:2387588

Abstract

A child with normal growth and development and the abnormal karyotype 46,XY,17ps, was analyzed using molecular probes localized to 17p13. The results indicated the presence of two copies of the probes YNZ22.1 (D17S5) and YNH37.3 (D17S28), previously shown to be deleted in all Miller-Dieker (MDS) patients studied. However, the patient was hemizygous for probe p144D6 (D17S34), which is absent in approximately 75% of the MDS patients. As the patient is active at 9 months of age, with no clinical signs of MDS, the results confirm that the absence of locus D17S34 does not lead to the phenotypic expression of MDS. Furthermore, this deletion should assist in defining the distal limits of this contiguous gene syndrome.

摘要

对一名生长发育正常但核型异常为46,XY,17ps的儿童，使用定位于17p13的分子探针进行了分析。结果表明存在两份探针YNZ22.1（D17S5）和YNH37.3（D17S28），先前在所有研究的米勒 - 迪克综合征（MDS）患者中显示这些探针是缺失的。然而，该患者的探针p144D6（D17S34）为半合子状态，约75%的MDS患者中不存在该探针。由于该患者9个月大时活动正常，无MDS的临床体征，结果证实D17S34位点的缺失不会导致MDS的表型表达。此外，这种缺失有助于确定这种相邻基因综合征的远端界限。