Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.
Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.
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DOI：
10.1002/ajmg.a.32957
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发表时间：
2009-08
影响因子：
2
通讯作者：
Boycott, Kym M.
中科院分区：
文献类型：
--
作者：
Carter, Melissa T.;Pierre, Stephanie A. St.;Zackai, Elaine H.;Emanuel, Beverly S.;Boycott, Kym M.
伊曼纽尔综合征的特征是多发性先天畸形和发育障碍。它是由含有11号和22号染色体材料的额外衍生染色体的存在引起的。这种不平衡的起源是11号和22号染色体之间父母平衡易位的3：1分离错误，这是人类最常见的反复相互易位。自20世纪80年代以来，关于这种综合征的临床特征的报道很少，有关自然病史的信息也很有限。我们设计了一份问卷，从国际在线支持组织22号染色体中心招募的家庭中收集信息。收集的数据包括有关先天畸形、内科和手术史、发育和行为问题以及当前能力的信息。我们收到了63名伊曼纽尔综合征患者的信息，年龄从新生儿到成年不等。正如以前认识到的，先天性畸形是常见的，最常见的是耳坑(76%)、小颌下垂(60%)、心脏畸形(57%)和腭裂(54%)。我们的数据表明，视力和听力障碍、癫痫发作、无法生长和反复感染，特别是中耳炎，在这种综合征中很常见。精神运动发育一律被推迟，然而大多数人(超过70%)最终学会了在支持下走路。语言发展和自我照顾能力也受到了很大的损害。这项研究为照顾伊曼纽尔综合征的家庭和医生提供了有关伊曼纽尔综合征的临床谱系和自然病史的新信息。
Emanuel syndrome is characterized by multiple congenital anomalies and developmental disability. It is caused by the presence of a supernumerary derivative chromosome that contains material from chromosomes 11 and 22. The origin of this imbalance is 3:1 malsegregation of a parental balanced translocation between chromosomes 11 and 22, which is the most common recurrent reciprocal translocation in humans. Little has been published on the clinical features of this syndrome since the 1980s and information on natural history is limited. We designed a questionnaire to collect information from families recruited through an international online support group, Chromosome 22 Central. Data gathered include information on congenital anomalies, medical and surgical history, developmental and behavioural issues, and current abilities. We received information on 63 individuals with Emanuel syndrome, ranging in age from newborn to adulthood. As previously recognized, congenital anomalies were common, the most frequent being ear pits (76%), micrognathia (60%), heart malformations (57%), and cleft palate (54%). Our data suggest that vision and hearing impairment, seizures, failure to thrive and recurrent infections, particularly otitis media, are common in this syndrome. Psychomotor development is uniformly delayed, however the majority of individuals (over 70%) eventually learn to walk with support. Language development and ability for self-care are also very impaired. This study provides new information on the clinical spectrum and natural history of Emanuel syndrome for families and physicians caring for these individuals.
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DOI：
10.1073/pnas.83.16.6122
发表时间：
1986-08-01
影响因子：
11.1
作者：
GRIFFIN, CA;MCKEON, C;EMANUEL, BS
通讯作者：
EMANUEL, BS
影响因子：
56.9
作者：
MCDERMID, HE;DUNCAN, AMV;WHITE, BN
通讯作者：
WHITE, BN
影响因子：
5.3
作者：
SCHINZEL, A;SCHMID, W;GRUBISIC, A
通讯作者：
GRUBISIC, A
影响因子：
2.4
作者：
Prieto, Juan C.;Garcia, Nilda M.;Baker, Linda A.
通讯作者：
Baker, Linda A.
影响因子：
9.8
作者：
Shaikh, TH;Budarf, ML;Emanuel, BS
通讯作者：
Emanuel, BS