| 摘要: |
| 报道一例17q22q23.1微缺失。患儿，女，足月产，宫内发育迟缓，特殊面容及多发畸形（小头畸形、指趾畸形、先天性心脏病），生后呼吸困难、喂养困难伴有全面发育迟缓。染色体核型分析：46,XX，正常核型；全外显子测序发现染色体17q22q23.1区段存在约 2.287Mb的片段缺失。结合文献复习，对其临床及遗传学进行讨论。 |
| 关键词: 17q缺失 发育迟缓 多发畸形 |
| DOI：10.12025/j.issn.1008-6358.2023.20230099 |
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| Clinical and genetic characteristics of chromosomal 17q22q23.1 deletion: a case report and literature review |
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HU Tian-tian, HU He-fen, HUANG Zong-xuan, TAO Yan-ling
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Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining 272000, Shandong, China
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| Abstract: |
| Abstract: The child with 17q22q23.1 microdeletion was a full-term female，she has intrauterine growth retardation, special facial features and multiple deformities (microcephaly, deformities of fingers and toes, congenital heart disease), dyspnea and feeding difficulties with overall growth retardation after birth. Chromosome karyotype analysis was 46XX, whole-exome sequencing showed a deletion of about 2.287 Mb in chromosome 17q22q23.1. After reviewing of literatures the clinical and genetic characteristics was carried out. |
| Key words: 17q deletion development delay multiple malformation |
