扩展相互易位 1q21.1 缺失和重复的表型：病例系列。
Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series.
机构信息
Department of Sciences for Health Promotion and Mother and Child Care "Giuseppe D'Alessandro", University of Palermo, Palermo, Italy.
Laboratory of Medical Cytogenetic, AOOR Villa Sofia-Cervello, Palermo, Italy.
出版信息
Ital J Pediatr. 2017 Jul 19;43(1):61. doi: 10.1186/s13052-017-0380-x.
BACKGROUND
Recurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association with 1q21.1 microdeletions include developmental delay, craniofacial dysmorphism and congenital anomalies. The 1q21.1 reciprocal duplication has been associated with macrocephaly or relative macrocephaly, frontal bossing, hypertelorism, developmental delay, intellectual disability and autism spectrum disorder.
METHODS
Our study describes seven patients, who were referred to us for developmental delay/intellectual disability, dysmorphic features and, in some cases, congenital anomalies, in whom we identified 1q21.1 CNVs by array-CGH.
RESULTS
Our data confirm the extreme phenotypic variability associated with 1q21.1 microdeletion and microduplication. We observed common phenotypic features, described in previous studies, but we also described, for the first time, congenital hypothyroidism in association with 1q21.1 deletion and trigonocephaly associated with 1q21.1 duplication.
CONCLUSIONS
The aim of this study is to contribute to the definition of the phenotype associated with reciprocal 1q21.1 deletions and duplications.
背景
反复出现的 1q21.1 缺失和重复与多种表型相关。与 1q21.1 微缺失相关的表型特征包括发育迟缓、颅面畸形和先天异常。1q21.1 相互易位重复与大头畸形或相对大头畸形、额骨突出、远视、发育迟缓、智力残疾和自闭症谱系障碍相关。
方法
我们的研究描述了 7 名患者，他们因发育迟缓/智力残疾、发育不良特征以及在某些情况下的先天异常而被转介至我们处，我们通过微阵列比较基因组杂交技术（array-CGH）确定了这些患者存在 1q21.1 CNVs。
结果
我们的数据证实了与 1q21.1 微缺失和微重复相关的极端表型变异性。我们观察到了先前研究中描述的常见表型特征，但我们还首次描述了与 1q21.1 缺失相关的先天性甲状腺功能减退症和与 1q21.1 重复相关的三角头畸形。
结论
本研究旨在为定义与 1q21.1 缺失和重复相关的表型做出贡献。
Zotero 插件