Year: 2025
Type: article
Study design: Case Report
Abstract: Backgroud:17p12microdeletion syndrome is a relatively rare chromosomal abnormality, which was accompanied with phenotypic variability. The reports on prenatal ultrasound abnormalities of fetus with 17p12 microdeletion are rare. Here we reported a case found by abnormal ultrasound appearance and verified by chromosomal microarray analysis. Methods: Ultrasoundgraphy in the first and second trimester of pregnancy was adopted to detect the development of organs. Chromosomal karyotype analysis was taken to analyze the number and structure of chromosome. Microdeletion of about 1.4Mb in the short arm of chromosome 17p12 were detected by chromosomal microarray analysis and were confirmed by copy number variation analysis based on high-throughput sequencing technology. Results: Chromosomal microarray analysis showed arr [hg19]17p12 (14, 087,919-15, 479, 940)×1, with microdeletion size of 1.4Mb, which involved COX10(602125), PMP (601097) and other five OMIN genes. Ultrasound manifested multiple deformity during routine prenatal examination. The karyotype analysis showed no abnormalities. Conclusion: The microdeletion fragment of fetal chromosome 17 was successfully detected and diagnosed. When fetal malformations are detected by ultrasound, but no abnormalities are found in karyotype analysis, further microarray analysis is required.
Author: Shanrong Shu
Institution: First Affiliated Hospital of Jinan University
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Award: G4639716772
OpenAlex ID: W4409181394