Clinical phenotype and genetic analysis of a patient with a heterozygous 6p25.3 deletion and partial trisomy 15q
10.3760/cma.j.cn511374-20210621-00520
- VernacularTitle:6p25.3杂合缺失伴15q部分三体患者1例的临床表型与遗传学分析
- Author:
Haiqin WANG
1
;
Panlai SHI
;
Yaqin HOU
;
Duo CHEN
;
Hongqin HE
;
Xiangdong KONG
Author Information
1. 运城市妇幼保健院遗传科，运城 044099
- Keywords:
Müllerian duct anomalies;
Mental retardation;
6p25.3 heterozygous deletion;
15q26.1q26.3 duplication
- From:
Chinese Journal of Medical Genetics
2023;40(8):1028-1031
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical phenotype and genetic characteristics of a patient with a heterozygous 6p25.3 deletion and partial trisomy 15q.Methods:A patient who had presented at the Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University on May 14, 2021 was selected as the study subject. Clinical data of the patient was collected, and G-banded chromosomal karyotyping and copy number variation sequencing (CNV-seq) were carried out.Results:The patient′s main clinical features included complete uterine septum, vaginal septum, atrophy of left eyeball, abnormal fingers and toes, and mental retardation. The karyotype of the patient was 46, XX, der(6)t(6; 15)(p25.3; q26.1). CNV-seq result has indicated a 1.20 Mb heterozygous deletion in the 6p25.3 region and a 10.20 Mb duplication in the 15q26.1q26.3 region. The deletion segment has included the FOXQ1 gene, which may be related with the abnormal development of the left eye. The duplication segment has a 96.16% overlap with the region associated with 15q26 overgrowth syndrome (including the IGF1R gene), which may be related to the patient′ s abnormal development of the Müllerian duct, abnormal fingers and toes, and mental developmental delay. Conclusion:The heterozygous deletion of the 6p25.3 region and duplication of the 15q26.1q26.3 region probably underlay the abnormal clinical phenotype in this patient.
