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首页> 外文期刊>Molecular syndromology >Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability
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Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability

机译：间隙性1q21.1微缺失与严重的骨骼异常，畸形的面部和中度智力障碍有关

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摘要

We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings. A few genes within the deleted region are associated with congenital anomalies, mainly the RBM8A, DUF1220, and HYDIN2 paralogs. Our patient presents with a spectrum of unusual malformations of 1q21.1 deletion syndrome not reported up to date.
机译：我们报告了一位巴西患者，其染色体1q21.1中存在1.7 Mb的间质微缺失。表型特征包括小头畸形，特殊的面部格式塔，唇裂/ pal裂以及以畸形指骨，脊柱侧弯，椎体异常建模，髋关节脱位，髋臼异常，足部异常和神经心理发育迟缓为代表的多个骨骼异常。该区域报道的缺失在临床上是异质的，范围从细微的表型表现到严重的先天性心脏缺陷和/或神经发育发现。缺失区域内的一些基因与先天异常有关，主要是RBM8A，DUF1220和HYDIN2旁系同源物。我们的患者出现了1q21.1缺失综合征的一系列异常畸形，但尚未报告。

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