为了描述物理特征,医疗并发症,和经典7q11.23重复综合征的自然史[以下简称Dup7(MIM609757)],威廉姆斯综合征中删除的区域的相互重复[以下简称WS(MIM194050)],我们系统评估了53名年龄在1.25-21.25岁的个体和11名在级联测试中确定的受影响的成年亲属.在这个系列中,有Dup7的先证者中有27%的父母受到影响。在检查倒位的26个从头重复中,有7个被倒置;在所有七个案例中,父母之一都具有WS区域的常见倒置多态性。我们记录了Dup7的颅面特征:短头畸形,宽阔的前额,直眉,宽阔的鼻尖,小柱的低插入,短的philtrum,薄薄的上唇,轻微的耳朵异常,和面部不对称。大约30%的新生儿和50%的年龄较大的儿童和成人患有大头畸形。88.7%的儿童在神经系统检查中发现了异常,而81.6%的MRI研究显示结构异常,如脑白质体积减少,小脑疣发育不全,还有脑室肿大.62.3%的患者出现小脑功能障碍的迹象,58.5%的低张力,发育协调障碍占74.2%,语音障碍占82.6%。行为问题包括焦虑症,多动症,和对立障碍。医疗问题包括癫痫发作,19%;生长激素缺乏,9.4%;动脉导管未闭,15%;主动脉扩张,46.2%;慢性便秘,66%;和结构性肾脏异常,18%。我们将这些结果与WS表型进行比较,并为Dup7患者的医学评估和监测提供初步建议。
In order to describe the physical characteristics, medical complications, and natural history of classic 7q11.23 duplication syndrome [hereafter Dup7 (MIM 609757)], reciprocal duplication of the region deleted in Williams syndrome [hereafter WS (MIM 194050)], we systematically evaluated 53 individuals aged 1.25-21.25 years and 11 affected adult relatives identified in cascade testing. In this series, 27% of probands with Dup7 had an affected parent. Seven of the 26 de novo duplications that were examined for inversions were inverted; in all seven cases one of the parents had the common inversion polymorphism of the WS region. We documented the craniofacial features of Dup7: brachycephaly, broad forehead, straight eyebrows, broad nasal tip, low insertion of the columella, short philtrum, thin upper lip, minor ear anomalies, and facial asymmetry. Approximately 30% of newborns and 50% of older children and adults had macrocephaly. Abnormalities were noted on neurological examination in 88.7% of children, while 81.6% of MRI studies showed structural abnormalities such as decreased cerebral white matter volume, cerebellar vermis hypoplasia, and ventriculomegaly. Signs of cerebellar dysfunction were found in 62.3%, hypotonia in 58.5%, Developmental Coordination Disorder in 74.2%, and Speech Sound Disorder in 82.6%. Behavior problems included anxiety disorders, ADHD, and oppositional disorders. Medical problems included seizures, 19%; growth hormone deficiency, 9.4%; patent ductus arteriosus, 15%; aortic dilation, 46.2%; chronic constipation, 66%; and structural renal anomalies, 18%. We compare these results to the WS phenotype and offer initial recommendations for medical evaluation and surveillance of individuals who have Dup7.