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Developmental retardation due to paternal 5q/11q translocation in a Chinese infant: clinical, chromosomal and

Xiangyu Zhao1, Hongyan Xu, Chen Zhao

  • 1Department of Medical Genetics, Linyi People's Hospital, Linyi 276003, Shandong, People's Republic of China. lilinxy1996@163.com.

Journal of Genetics
|September 24, 2019
PubMed

Insights

Chromosomal translocation in parents can lead to birth defects. This study identified a paternal translocation between chromosomes 5 and 11 in a Chinese infant with multiple malformations, using chromosomal microarray analysis and fluorescence in situ hybridization.

Area of Science:

  • Human Genetics
  • Medical Genetics
  • Reproductive Genetics

Background:

  • Parental chromosomal translocations increase risks of miscarriage and embryonic death.
  • Normal gestation and delivery are still possible in carriers of chromosomal translocations.
  • Genetic factors underlying multiple malformations and developmental retardation require investigation.

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