PDF(Pubmed)
Abstract：
BACKGROUND: Distal Xq28 duplication, or int22h1/int22h2-mediated Xq28 duplication syndrome, leads to cognitive impairment, neurobehavioral issues, and facial dysmorphisms. Existing literature has limited information on clinical traits and penetrance.
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.
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.
摘要：
背景：远端Xq28重复，或int22h1/int22h2介导的Xq28重复综合征，导致认知障碍，神经行为问题,和面部畸形。现有文献关于临床特征和外显率的信息有限。
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。
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。
