Geckinli B B, Aydin H, Karaman A
Genet Couns. 2014;25(4):405-12.
We report a patient with neurodevelopmental delay, hypotonia, congenital cardiac anomaly and dysmorphic features such as macrocephaly, a large anterior fontanel, prominent forehead, short neck, downslanted and short palpebral fissures, hypertelorism, wide nasal bridge, straight, thin nose with asymmetric narrow inverted nostrils, micrognathia, low-set dysplastic ears. 7p15.3-p22.3 duplication and a 7p22.3-pter deletion were characterized by array-CGH analysed after karyotyping and FISH studies. The patient's distinctive features are consistent with the phenotypic features of 7p duplication. The genes involved in these regions are discussed for their possible relation to our patient's phenotype.
我们报告了一名患有神经发育迟缓、肌张力减退、先天性心脏异常以及畸形特征（如巨头畸形、前囟大、前额突出、颈部短、睑裂向下倾斜且短、眼距增宽、鼻梁宽、鼻子挺直且细、不对称狭窄的倒V形鼻孔、小颌畸形、低位发育不良耳）的患者。通过核型分析和荧光原位杂交（FISH）研究后，采用比较基因组杂交芯片（array-CGH）对7p15.3 - p22.3重复和7p22.3 - pter缺失进行了特征描述。患者独特的特征与7p重复的表型特征一致。讨论了这些区域中涉及的基因与我们患者表型的可能关系。
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