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

引用

页数：10

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