20p11 Deletion in a Female Child with Panhypopituitarism, Cleft Lip and Palate, Dysmorphic Facial Features, Global Developmental Delay and Seizure Disorder
20p11 Deletion in a Female Child with Panhypopituitarism, Cleft Lip and Palate, Dysmorphic Facial Features, Global Developmental Delay and Seizure Disorder
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DOI：
10.1002/ajmg.a.33763
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发表时间：
2011-01-01
影响因子：
2
通讯作者：
Hersh, J. H.
中科院分区：
文献类型：
--
作者：
Williams, P. G.;Wetherbee, J. J.;Hersh, J. H.
20p的缺失很少见，大多数报告的病例涉及与Alagille综合征相关的20p12缺失的个体。我们报告一例20p11缺失的儿童，其临床表现为全垂体功能减退；脑部MRI表现为脑垂体腺发育不良及异位后脑垂体腺；唇腭裂；L1及L2椎体前喙后凸畸形；肺狭窄；面部畸形，包括扁平鼻桥、前上颌骨发育不良、甲状旁腺功能减退、耳前凹陷及杯状耳朵；癫痫发作障碍；肌张力变化；以及整体发育迟缓。阵列比较基因组杂交显示该缺失大小约为5.4Mb，包含35个基因。以前曾报道过一例20p11.22缺失的婴儿，他有全垂体功能减退、颅面和生殖器异常，但该缺失的确切参数尚不清楚。其他几个报道的20p11缺失病例也与我们的病例有表型重叠。这些患者在临床特征上的相似性表明，20p11处的基因在中线脑结构的发育中起着关键作用。(C)2010年Wiley-Liss公司
Deletions of 20p are rare with the majority of reported cases involving individuals with 20p12 deletions associated with Alagille syndrome. We report on a child with a de novo mosaic 20p11 deletion who presents with panhypopituitarism; hypoplastic pituitary gland and ectopic posterior pituitary gland on MRI of the brain; cleft lip and palate; kyphosis with anterior beaking of L1 and L2 vertebral bodies; pulmonic stenosis; dysmorphic facial features including flat nasal bridge, hypoplastic premaxilla, hypotelorism, preauricular pit, and cupped ears; seizure disorder; variable muscle tone; and global developmental delay. Array comparative genomic hybridization revealed this deletion to be approximately 5.4 Mb in size, containing 35 genes. Previously, an infant with 20p11.22 deletion who had panhypopituitarism, craniofacial, and genital abnormalities was reported, but the precise parameters of that deletion are unavailable. Several other reported cases of 20p11 deletions also have phenotypic overlap with our case. The similarities in clinical features of these patients suggest that the genes at 20p11 have a critical role in development of midline brain structures. (C) 2010 Wiley-Liss, Inc.