METHODS: We identified cases of distal Xq28 duplication (chrX: 154,126,575-154,709,680, GRCh37/hg19) through a review of clinical records and microarray reports from five centers, encompassing both postnatal and prenatal cases, with no prior family knowledge of the duplication.
RESULTS: Our search found 47 cases across 26 families, with duplications ranging from 208 to 935 Kb. In total, 8 out of 26 index cases featured a 200-300 kb partial duplication, mainly from Armenian/Caucasian Jewish backgrounds. Most prenatal cases showed no major fetal ultrasound malformations. Of cases with known inheritance mode (15 out of 26), maternal inheritance was more common (80%). The study identified seven male carriers of the duplication from six unrelated families, indicating partial penetrance in males.
CONCLUSIONS: Our study provides key insights into distal Xq28 duplication. Most prenatal tests showed no major fetal ultrasound issues. Maternal inheritance was common, with unaffected mothers. In the postnatal group, a balanced gender distribution was observed. Among male family members, two fathers had ADHD, one was healthy, and one brother had mild symptoms, indicating partial penetrance in males.
方法:我们通过回顾来自五个中心的临床记录和微阵列报告,确定了远端Xq28重复的病例(chrX:154,126,575-154,709,680,GRCh37/hg19)。包括产后和产前病例,没有先前的家庭知识的重复。
结果:我们的搜索发现26个家庭的47例,重复范围从208到935Kb。总的来说,26个索引案例中有8个具有200-300kb的部分重复,主要来自亚美尼亚/高加索犹太背景。大多数产前病例未显示主要的胎儿超声畸形。在已知继承模式的情况下(26个中的15个),母系遗传更为常见(80%).该研究确定了来自六个不相关家庭的七个男性重复携带者,表明男性的部分外显率。
结论:我们的研究提供了有关远端Xq28重复的关键见解。大多数产前检查显示没有重大的胎儿超声问题。母系遗传很常见,不受影响的母亲。在产后组,观察到性别分布均衡.在男性家庭成员中,两个父亲有多动症,一个是健康的,一个兄弟有轻微的症状,表明男性的部分外显率。