Genetic analysis and prenatal diagnosis of a pedigree with developmental retardation due to paternal 8q/18q translocation

被引：1
|
作者：
Jin, Chunyan [1 ]
Li, Xuefang [1 ]
Chen, Jiao [1 ]
Gu, Zhiping [1 ]
Xu, Tianhui [1 ]
机构：
[1] Nanjing Med Univ, Affiliated Taizhou Peoples Hosp, Dept Med Genet & Prenatal Diag, Taizhou Peoples Hosp, Taizhou, Peoples R China
来源：
CLINICAL CASE REPORTS | 2023年 / 11卷 / 12期
关键词：
18q deletion syndrome; 8q duplication; 8q/18q translocation; balanced translocation; enrichment analysis; prenatal diagnosis; DUPLICATION; SEGREGATION; DELETIONS; EPILEPSY; PROTEIN;
D O I：
10.1002/ccr3.8315
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Balanced reciprocal chromosomal translocation carriers will have greater risk to experience recurrent miscarriages, embryonic death, and infertility. We show the pedigree carrying a paternal karyotype which was reported first. This research helps to better understand the clinical manifestations and prognosis of patients with this rare chromosomal abnormality. Pedigree of the family.image
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页数：10
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