Fries M H, Lebo R V, Schonberg S A, Golabi M, Seltzer W K, Gitelman S E, Golbus M S
Department of Obstetrics, Gynecology, and Reproductive Science, University of California, San Francisco 94143-0720.
Am J Med Genet. 1993 Jun 1;46(4):363-8. doi: 10.1002/ajmg.1320460404.
Xp21 microdeletion syndrome is associated with variable size Xp21 deletions that usually include the glycerol kinase locus. The clinical phenotypes we studied in this chromosome region include: Xpter - Aland Island eye disease (AIED) -adrenal hypoplasia (AH) -glycerol kinase (GKD) -Duchenne muscular dystrophy (DMD) -retinitis pigmentosa (RP) -ornithine transcarbamylase (OTC) -centromere. In a compilation of 18 individuals in 14 families with the AH, GKD, and DMD loci deleted, 17 were male and all were developmentally delayed. In contrast, we report mentally retarded female carriers in two Xp21 deletion syndrome families with DMD, GKD, and AH in affected males. In the first family with normal karyotypes, a submicroscopic deletion was associated with DMD in the retarded male and with retardation in carrier females. In the second family an X chromosome with a cytogenetically deleted Xp21 distal to the OTC and RP genes segregated in the affected male and retarded female carriers. DNA analysis at the DMD locus verified the cytogenetic findings. This report of mental retardation in otherwise asymptomatic female carriers of Xp21 deletion classifies one form of mental retardation in females.
Xp21微缺失综合征与大小可变的Xp21缺失相关，这些缺失通常包括甘油激酶基因座。我们在该染色体区域研究的临床表型包括：Xpter - 阿兰岛眼病（AIED） - 肾上腺发育不全（AH） - 甘油激酶（GKD） - 杜氏肌营养不良症（DMD） - 视网膜色素变性（RP） - 鸟氨酸转氨甲酰酶（OTC） - 着丝粒。在14个家庭中18名AH、GKD和DMD基因座缺失的个体汇总中，17名是男性，且均有发育迟缓。相比之下，我们报告了两个Xp21缺失综合征家庭中智力发育迟缓的女性携带者，患病男性有DMD、GKD和AH。在第一个核型正常的家庭中，一个亚显微缺失与智力发育迟缓男性的DMD以及携带者女性的智力发育迟缓有关。在第二个家庭中，一条X染色体在OTC和RP基因远端的Xp21发生细胞遗传学缺失，在患病男性和智力发育迟缓的女性携带者中分离。DMD基因座的DNA分析证实了细胞遗传学结果。这份关于Xp21缺失的无症状女性携带者智力发育迟缓的报告对女性智力发育迟缓的一种形式进行了分类。
