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Luo A, Cheng D, Yuan S, et al. Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings. Mol Cytogenet. 2018;11:24doi: 10.1186/s13039-018-0371-7.
Luo, A., Cheng, D., Yuan, S., Li, H., Du, J., Zhang, Y., Yang, C., Lin, G., Zhang, W., & Tan, Y. Q. (2018). Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings. Molecular cytogenetics, 1124. https://doi.org/10.1186/s13039-018-0371-7
Luo, Aixiang, et al. "Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings." Molecular cytogenetics vol. 11 (2018): 24. doi: https://doi.org/10.1186/s13039-018-0371-7
Luo A, Cheng D, Yuan S, Li H, Du J, Zhang Y, Yang C, Lin G, Zhang W, Tan YQ. Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings. Mol Cytogenet. 2018 Apr 04;11:24. doi: 10.1186/s13039-018-0371-7. eCollection 2018. PMID: 29636822; PMCID: PMC5883343.
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Mol Cytogenet. 2018 Apr 04;11:24. doi: 10.1186/s13039-018-0371-7. eCollection 2018.

Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings.

Molecular cytogenetics

Aixiang Luo, Dehua Cheng, Shimin Yuan, Haiyu Li, Juan Du, Yang Zhang, Chuanchun Yang, Ge Lin, Wenyong Zhang, Yue-Qiu Tan

Affiliations

  1. 1Institute of Reproduction and Stem Cell Engineering, Xiangya School of Medicine, Central South University, Changsha, Hunan 410078 People's Republic of China.
  2. 2Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan 410078 People's Republic of China.
  3. 3School of Biological Sciences, Faculty of Science, The University of Hong Kong, Hong Kong, 999077 People's Republic of China.
  4. Cheerland Precision Biomed Co., Ltd., Shenzhen, Guangdong 518055 People's Republic of China.
  5. Southern University of Science and Technology, Shenzhen, Guangdong 518055 People's Republic of China.

PMID: 29636822 PMCID: PMC5883343 DOI: 10.1186/s13039-018-0371-7

Abstract

BACKGROUND: 1q43-q44 deletion syndrome is a well-defined chromosomal disorder which is characterized by moderate to severe mental retardation, and variable but characteristic facial features determined by the size of the segment and the number of genes involved. However, patients with 1q43-q44 duplication with a clinical phenotype comparable to that of 1q43-q44 deletion are rarely reported. Moreover, pure 1q43-q44 deletions and duplications derived from balanced insertional translocation within the same family with precisely identified breakpoints have not been reported.

CASE PRESENTATION: The proband is a 6-year-old girl with profound developmental delay, mental retardation, microcephaly, epilepsy, agenesis of the corpus callosum and hearing impairment. Her younger brother is a 3-month-old boy with macrocephaly and mild developmental delay in gross motor functions. G-banding analysis of the subjects at the 400-band level did not reveal any subtle structural changes in their karyotypes. However, single-nucleotide polymorphism (SNP) array analysis showed a deletion and a duplication of approximately 6.0 Mb at 1q43-q44 in the proband and her younger brother, respectively. The Levicare analysis pipeline of whole-genome sequencing (WGS) further demonstrated that a segment of 1q43-q44 was inserted at 14q23.1 in the unaffected mother, which indicated that the mother was a carrier of a 46,XX,ins(14;1)(q23.1;q43q44) insertional translocation. Moreover, Sanger sequencing was used to assist the mapping of the breakpoints and the final validation of those breakpoints. The breakpoint on chromosome 1 disrupted the

CONCLUSION: Here, we describe a rare family exhibiting pure 1q43-q44 deletion and duplication in two siblings caused by a maternal balanced insertional translocation. Our study demonstrates that WGS with a carefully designed analysis pipeline is a powerful tool for identifying cryptic genomic balanced translocations and mapping the breakpoints at the nucleotide level and could be an effective method for explaining the relationship between karyotype and phenotype.

Keywords: Congenital anomaly; Insertional translocation; Pure 1q43-q44 deletion/duplication; Whole-genome sequencing

Conflict of interest statement

This study was approved by the Institutional Ethics Committee of the Reproductive and Genetic Hospital of Citic-Xiangya, and written informed consent was obtained from all participants prior to geneti

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