7q11.23 Duplication syndrome: Physical characteristics and natural history.
7q11.23 Duplication syndrome: Physical characteristics and natural history.
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DOI：
10.1002/ajmg.a.37340
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发表时间：
2015-12
影响因子：
2
通讯作者：
Osborne, Lucy R.
中科院分区：
文献类型：
--
作者：
Morris, Colleen A.;Mervis, Carolyn B.;Paciorkowski, Alex P.;Abdul-Rahman, Omar;Dugan, Sarah L.;Rope, Alan F.;Bader, Patricia;Hendon, Laura G.;Velleman, Shelley L.;Klein-Tasman, Bonita P.;Osborne, Lucy R.
关键词：
为了描述经典 7q11.23 重复综合征 [以下简称 Dup7 (MIM 609757)] 的身体特征、医学并发症和自然史，以及威廉姆斯综合征中删除区域的相互重复 [以下简称 WS (MIM 194050)]，我们系统地评估了 53 名年龄为 1.25-21.25 岁的个体以及在级联测试中确定的 11 名受影响的成年亲属。在这个系列中，27% 的 Dup7 先证者有一位受影响的父母。在检查倒位的 26 个从头重复中，有 7 个是倒位的；在所有 7 个病例中，父母之一具有 WS 区域的共同倒位多态性。我们记录了 Dup7 的颅面特征：短头畸形、宽额头、直眉毛、宽鼻尖、鼻小柱插入位置低、人中短、上唇薄、耳朵轻微异常和面部不对称。大约 30% 的新生儿和 50% 的大龄儿童和成人患有巨头畸形。 88.7%的儿童在神经系统检查中发现异常，而81.6%的MRI研究显示结构异常，如脑白质体积减少、小脑蚓部发育不全和脑室扩大。 62.3% 存在小脑功能障碍，58.5% 存在肌张力低下，74.2% 存在发育协调障碍，82.6% 存在言语障碍。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%；生长激素缺乏症，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 7 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.
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影响因子：
3.5
作者：
Dixit, A.;McKee, S.;Sarkar, A.
通讯作者：
Sarkar, A.
影响因子：
10.6
作者：
Mulle, Jennifer Gladys;Pulver, Ann E.;McGrath, John A.;Wolyniec, Paula S.;Dodd, Anne F.;Cutler, David J.;Sebat, Jonathan;Malhotra, Dheeraj;Nestadt, Gerald;Conrad, Donald F.;Hurles, Matthew;Barnes, Chris P.;Ikeda, Masashi;Iwata, Nakao;Levinson, Douglas F.;Gejman, Pablo V.;Sanders, Alan R.;Duan, Jubao;Mitchell, Adele A.;Peter, Inga;Sklar, Pamela;O'Dushlaine, Colm T.;Grozeva, Detelina;O'Donovan, Michael C.;Owen, Michael J.;Hultman, Christina M.;Kahler, Anna K.;Sullivan, Patrick F.;Kirov, George;Warren, Stephen T.
通讯作者：
Warren, Stephen T.
影响因子：
0.9
作者：
Depienne, C;Heron, D;Brice, A
通讯作者：
Brice, A
影响因子：
3.6
作者：
Kuijpers, GMC;De Vroede, M;Jansen, M
通讯作者：
Jansen, M
影响因子：
3.9
作者：
McGrew, Susan G.;Peters, Brittany R.;Veenstra-VanderWeele, Jeremy
通讯作者：
Veenstra-VanderWeele, Jeremy