| Clinical and genetic characteristics of chromosomal 17q22q23.1 deletion: a case report and literature review |
| Received:February 01, 2023 Revised:February 27, 2023 Click here to download the full text |
| Citation of this paper:HU Tian-tian,HU He-fen,HUANG Zong-xuan,TAO Yan-ling.Clinical and genetic characteristics of chromosomal 17q22q23.1 deletion: a case report and literature review[J].Chinese Journal of Clinical Medicine,2023,30(5):914-封三 |
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| Author Name | Affiliation | E-mail | | HU Tian-tian | Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining 272000, Shandong, China | | | HU He-fen | Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining 272000, Shandong, China | | | HUANG Zong-xuan | Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining 272000, Shandong, China | | | TAO Yan-ling | Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining 272000, Shandong, China | jyfyhtt@163.com |
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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. |
| keywords:17q deletion development delay multiple malformation |
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