A Fetus with 17p13.3 Deletion and 15q24.1q26.3 Duplication Derived from a Paternal Balance Translocation t (15; 17) (q24; p13)

Yinghui Dang; Shanning Wan; Yunyun Zheng; Ying Xu; Jia Li; Hong Yang

doi:doi:10.11648/j.cmr.20231203.12

| Peer-Reviewed

A Fetus with 17p13.3 Deletion and 15q24.1q26.3 Duplication Derived from a Paternal Balance Translocation t (15; 17) (q24; p13)

Yinghui Dang, Shanning Wan, Yunyun Zheng, Ying Xu, Jia Li, Hong Yang

Published in Clinical Medicine Research (Volume 12, Issue 3)

Received: 22 May 2023 Accepted: 17 June 2023 Published: 6 July 2023

Views: Downloads:

Download PDF

Share This Article

Twitter
Linked In
Facebook

Abstract

Background: We present prenatal diagnosis of a 17p13.3 deletion and 15q24.1q26.3 duplication associated with paternal chromosome balance translocation, and to illustrate the importance of early diagnosis ultrasound showed fetal structural abnormality and reduce the birth defects. Case presentation: A primigravid woman who 25-year-old underwent amniocentesis at 24weeks of gestation because of the ultrasound showed the head structure abnormal of fetus. The routine test indicates that the fetus is normal in early pregnancy. Karyotype analysis showed 46, XN, -17, der (17)t (15; 17) (q24.1; p13.3), chromosome microarray analysis (CMA) detected a duplication on chromosome 15 and a deletion on chromosome 17 of fetus. Furthermore, the results of chromosome karyotype analysis indicated that the maternal karyotype is normal and the paternal karyotype is a balanced translocation of 46, XY, t (15; 17) (q24; p13), which inherited to the fetus. The pregnant woman decided to terminate the pregnancy after counseling. Conclusions: CMA is useful in prenatal to diagnose of fetal chromosomal abnormalities in pregnancy with ultrasound showed fetal abnormal structure, CMA can’t detect balanced translocations, but can be found by karyotyping. The two methods are complement each other. In addition, for patients with balanced translocations, preimplantation genetic diagnosis may be an option, it not only relieves the pain of spontaneous abortion for patients but also avoids the birth of defective fetal.

Published in	Clinical Medicine Research (Volume 12, Issue 3)
DOI	10.11648/j.cmr.20231203.12
Page(s)	52-56
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

CMA, Prenatal Diagnosis, Karyotyping, Chromosome Balance Translocation

References

[1]	Mei J, Wang H, Zhan L, et al. 10p15.3p13 duplication inherited from paternal balance translocation (46, XY, t (5; 10) (q35.1; p13) identified on non-invasive prenatal testing [J]. J Obstet Gynaecol Res, 2017, 43 (6) : 1076-1079.
[2]	Kim JW, Shim SH, Lee WS, et al. De novo balanced reciprocal translocation t (2; 3) (q31; q27) in a fetus conceived using PGD in a t (2; 14) (q35; q32.1) balanced reciprocal translocation carrier mother [J]. Clin Case Rep, 2017, 5 (6) : 841-844.
[3]	Cynthia J Curry, Jill A Rosenfeld, Erica Grant, et al. The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes [J]. Am J Med Genet A. 2013 August, 161A (8): 1833–1852.
[4]	Bi W, Sapir T, Shchelochkov OA, et al. Increased LIS1 expression affects human and mouse brain development [J]. Nat Genet. 2009, 41 (2): 168–177.
[5]	Cecile Mignon-Ravix, Pierre Cacciagli, Bilal El-Waly, et al. Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia [J]. J Med Genet. 2010.
[6]	Fioretos, T, Heisterkamp, N, Groffen, J, et al. CRK proto-oncogene maps to human chromosome band 17p13 [J]. Oncogene. 1993, 8: 2853-2855,
[7]	Lacro RV, Jones KL, Mascarello JT, et al. Duplication of distal 15q: report offive new cases from two different translocation kindreds [J]. Am J Med Genet. 1987, 26: 719-728.
[8]	Roggenbuck JA, Mendelsohn NJ, Tenenholz B, et al. Duplication of the distal long arm of chromosome 15: report of three new patients and review of the literature[J]. Am J Med Genet. 2004, 126A: 398-402.
[9]	Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, et al. Molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect [J]. Taiwanese Journal of Obstetrics & Gynecology 2017, 56: 550-553.
[10]	Mi S, Pepinsky RB, Cadavid D, et al. Blocking LINGO-1 as a therapy to promote CNS repair: from concept to the clinic [J]. CNS Drugs, 2013, 27: 493-503.
[11]	Chowdhury S, Hobbs CA, MacLeod SL, et al. Associations between maternal genotypes and metabolites implicated in congenital heart defects [J]. Mol Genet Metab, 2012, 107: 596-604.
[12]	Putoux, A., Thomas, S., Coene, K. L. et al. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes [J]. Nature Genet. 2011, 43: 601-606.
[13]	Kulkarni S, Nagarajan P, Wall J, et al. Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causesscoliosis [J]. Am J Med Genet, 2008, 146A: 1117-1127.
[14]	Carvill GL, Heavin SB, Yendle SC, et al. Targeted resequencing in epileptic encephalopathies identifiesde novomutations in CHD2andSYNGAP1 [J]. Nat Genet 2013, 45: 825-830.
[15]	Carvill G, Helbig I, Mefford H. CHD2-related neurodevelopmental disorders. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2015 Dec 10. 1993-2017.
[16]	Saeed Al Turki, Ashok K. Manickaraj, et al. Rare Variants inNR2F2 Cause Congenital Heart Defects in Humans [J]. The American Journal of Human Genetics, 2014, April 3: 574–585.
[17]	Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, et al. Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function [J]. Bioscientifica Ltd 2017, 6: 528-539.

Cite This Article

Plain Text BibTeX RIS

APA Style

Yinghui Dang, Shanning Wan, Yunyun Zheng, Ying Xu, Jia Li, et al. (2023). A Fetus with 17p13.3 Deletion and 15q24.1q26.3 Duplication Derived from a Paternal Balance Translocation t (15; 17) (q24; p13). Clinical Medicine Research, 12(3), 52-56. https://doi.org/10.11648/j.cmr.20231203.12

Copy | Download

ACS Style

Yinghui Dang; Shanning Wan; Yunyun Zheng; Ying Xu; Jia Li, et al. A Fetus with 17p13.3 Deletion and 15q24.1q26.3 Duplication Derived from a Paternal Balance Translocation t (15; 17) (q24; p13). Clin. Med. Res. 2023, 12(3), 52-56. doi: 10.11648/j.cmr.20231203.12

Copy | Download

AMA Style

Yinghui Dang, Shanning Wan, Yunyun Zheng, Ying Xu, Jia Li, et al. A Fetus with 17p13.3 Deletion and 15q24.1q26.3 Duplication Derived from a Paternal Balance Translocation t (15; 17) (q24; p13). Clin Med Res. 2023;12(3):52-56. doi: 10.11648/j.cmr.20231203.12

Copy | Download

@article{10.11648/j.cmr.20231203.12,
  author = {Yinghui Dang and Shanning Wan and Yunyun Zheng and Ying Xu and Jia Li and Hong Yang},
  title = {A Fetus with 17p13.3 Deletion and 15q24.1q26.3 Duplication Derived from a Paternal Balance Translocation t (15; 17) (q24; p13)},
  journal = {Clinical Medicine Research},
  volume = {12},
  number = {3},
  pages = {52-56},
  doi = {10.11648/j.cmr.20231203.12},
  url = {https://doi.org/10.11648/j.cmr.20231203.12},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.cmr.20231203.12},
  abstract = {Background: We present prenatal diagnosis of a 17p13.3 deletion and 15q24.1q26.3 duplication associated with paternal chromosome balance translocation, and to illustrate the importance of early diagnosis ultrasound showed fetal structural abnormality and reduce the birth defects. Case presentation: A primigravid woman who 25-year-old underwent amniocentesis at 24weeks of gestation because of the ultrasound showed the head structure abnormal of fetus. The routine test indicates that the fetus is normal in early pregnancy. Karyotype analysis showed 46, XN, -17, der (17)t (15; 17) (q24.1; p13.3), chromosome microarray analysis (CMA) detected a duplication on chromosome 15 and a deletion on chromosome 17 of fetus. Furthermore, the results of chromosome karyotype analysis indicated that the maternal karyotype is normal and the paternal karyotype is a balanced translocation of 46, XY, t (15; 17) (q24; p13), which inherited to the fetus. The pregnant woman decided to terminate the pregnancy after counseling. Conclusions: CMA is useful in prenatal to diagnose of fetal chromosomal abnormalities in pregnancy with ultrasound showed fetal abnormal structure, CMA can’t detect balanced translocations, but can be found by karyotyping. The two methods are complement each other. In addition, for patients with balanced translocations, preimplantation genetic diagnosis may be an option, it not only relieves the pain of spontaneous abortion for patients but also avoids the birth of defective fetal.},
 year = {2023}
}

Copy | Download

TY  - JOUR
T1  - A Fetus with 17p13.3 Deletion and 15q24.1q26.3 Duplication Derived from a Paternal Balance Translocation t (15; 17) (q24; p13)
AU  - Yinghui Dang
AU  - Shanning Wan
AU  - Yunyun Zheng
AU  - Ying Xu
AU  - Jia Li
AU  - Hong Yang
Y1  - 2023/07/06
PY  - 2023
N1  - https://doi.org/10.11648/j.cmr.20231203.12
DO  - 10.11648/j.cmr.20231203.12
T2  - Clinical Medicine Research
JF  - Clinical Medicine Research
JO  - Clinical Medicine Research
SP  - 52
EP  - 56
PB  - Science Publishing Group
SN  - 2326-9057
UR  - https://doi.org/10.11648/j.cmr.20231203.12
AB  - Background: We present prenatal diagnosis of a 17p13.3 deletion and 15q24.1q26.3 duplication associated with paternal chromosome balance translocation, and to illustrate the importance of early diagnosis ultrasound showed fetal structural abnormality and reduce the birth defects. Case presentation: A primigravid woman who 25-year-old underwent amniocentesis at 24weeks of gestation because of the ultrasound showed the head structure abnormal of fetus. The routine test indicates that the fetus is normal in early pregnancy. Karyotype analysis showed 46, XN, -17, der (17)t (15; 17) (q24.1; p13.3), chromosome microarray analysis (CMA) detected a duplication on chromosome 15 and a deletion on chromosome 17 of fetus. Furthermore, the results of chromosome karyotype analysis indicated that the maternal karyotype is normal and the paternal karyotype is a balanced translocation of 46, XY, t (15; 17) (q24; p13), which inherited to the fetus. The pregnant woman decided to terminate the pregnancy after counseling. Conclusions: CMA is useful in prenatal to diagnose of fetal chromosomal abnormalities in pregnancy with ultrasound showed fetal abnormal structure, CMA can’t detect balanced translocations, but can be found by karyotyping. The two methods are complement each other. In addition, for patients with balanced translocations, preimplantation genetic diagnosis may be an option, it not only relieves the pain of spontaneous abortion for patients but also avoids the birth of defective fetal.
VL  - 12
IS  - 3
ER  -

Copy | Download

Author Information

Yinghui Dang

Department of Obstetrics and Gynecology, the First Affiliated Hospital, of AFMU (Air Force Medical University), Xi’an, China
Shanning Wan

Department of Obstetrics and Gynecology, the First Affiliated Hospital, of AFMU (Air Force Medical University), Xi’an, China
Yunyun Zheng

Department of Obstetrics and Gynecology, the First Affiliated Hospital, of AFMU (Air Force Medical University), Xi’an, China
Ying Xu

Department of Obstetrics and Gynecology, the First Affiliated Hospital, of AFMU (Air Force Medical University), Xi’an, China
Jia Li

Department of Obstetrics and Gynecology, the First Affiliated Hospital, of AFMU (Air Force Medical University), Xi’an, China
Hong Yang

Department of Obstetrics and Gynecology, the First Affiliated Hospital, of AFMU (Air Force Medical University), Xi’an, China

Download PDF

Sections

Plain Text BibTeX RIS

APA Style

Yinghui Dang, Shanning Wan, Yunyun Zheng, Ying Xu, Jia Li, et al. (2023). A Fetus with 17p13.3 Deletion and 15q24.1q26.3 Duplication Derived from a Paternal Balance Translocation t (15; 17) (q24; p13). Clinical Medicine Research, 12(3), 52-56. https://doi.org/10.11648/j.cmr.20231203.12

Copy | Download

ACS Style

Yinghui Dang; Shanning Wan; Yunyun Zheng; Ying Xu; Jia Li, et al. A Fetus with 17p13.3 Deletion and 15q24.1q26.3 Duplication Derived from a Paternal Balance Translocation t (15; 17) (q24; p13). Clin. Med. Res. 2023, 12(3), 52-56. doi: 10.11648/j.cmr.20231203.12

Copy | Download

AMA Style

Yinghui Dang, Shanning Wan, Yunyun Zheng, Ying Xu, Jia Li, et al. A Fetus with 17p13.3 Deletion and 15q24.1q26.3 Duplication Derived from a Paternal Balance Translocation t (15; 17) (q24; p13). Clin Med Res. 2023;12(3):52-56. doi: 10.11648/j.cmr.20231203.12

Copy | Download

@article{10.11648/j.cmr.20231203.12,
  author = {Yinghui Dang and Shanning Wan and Yunyun Zheng and Ying Xu and Jia Li and Hong Yang},
  title = {A Fetus with 17p13.3 Deletion and 15q24.1q26.3 Duplication Derived from a Paternal Balance Translocation t (15; 17) (q24; p13)},
  journal = {Clinical Medicine Research},
  volume = {12},
  number = {3},
  pages = {52-56},
  doi = {10.11648/j.cmr.20231203.12},
  url = {https://doi.org/10.11648/j.cmr.20231203.12},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.cmr.20231203.12},
  abstract = {Background: We present prenatal diagnosis of a 17p13.3 deletion and 15q24.1q26.3 duplication associated with paternal chromosome balance translocation, and to illustrate the importance of early diagnosis ultrasound showed fetal structural abnormality and reduce the birth defects. Case presentation: A primigravid woman who 25-year-old underwent amniocentesis at 24weeks of gestation because of the ultrasound showed the head structure abnormal of fetus. The routine test indicates that the fetus is normal in early pregnancy. Karyotype analysis showed 46, XN, -17, der (17)t (15; 17) (q24.1; p13.3), chromosome microarray analysis (CMA) detected a duplication on chromosome 15 and a deletion on chromosome 17 of fetus. Furthermore, the results of chromosome karyotype analysis indicated that the maternal karyotype is normal and the paternal karyotype is a balanced translocation of 46, XY, t (15; 17) (q24; p13), which inherited to the fetus. The pregnant woman decided to terminate the pregnancy after counseling. Conclusions: CMA is useful in prenatal to diagnose of fetal chromosomal abnormalities in pregnancy with ultrasound showed fetal abnormal structure, CMA can’t detect balanced translocations, but can be found by karyotyping. The two methods are complement each other. In addition, for patients with balanced translocations, preimplantation genetic diagnosis may be an option, it not only relieves the pain of spontaneous abortion for patients but also avoids the birth of defective fetal.},
 year = {2023}
}

Copy | Download

TY  - JOUR
T1  - A Fetus with 17p13.3 Deletion and 15q24.1q26.3 Duplication Derived from a Paternal Balance Translocation t (15; 17) (q24; p13)
AU  - Yinghui Dang
AU  - Shanning Wan
AU  - Yunyun Zheng
AU  - Ying Xu
AU  - Jia Li
AU  - Hong Yang
Y1  - 2023/07/06
PY  - 2023
N1  - https://doi.org/10.11648/j.cmr.20231203.12
DO  - 10.11648/j.cmr.20231203.12
T2  - Clinical Medicine Research
JF  - Clinical Medicine Research
JO  - Clinical Medicine Research
SP  - 52
EP  - 56
PB  - Science Publishing Group
SN  - 2326-9057
UR  - https://doi.org/10.11648/j.cmr.20231203.12
AB  - Background: We present prenatal diagnosis of a 17p13.3 deletion and 15q24.1q26.3 duplication associated with paternal chromosome balance translocation, and to illustrate the importance of early diagnosis ultrasound showed fetal structural abnormality and reduce the birth defects. Case presentation: A primigravid woman who 25-year-old underwent amniocentesis at 24weeks of gestation because of the ultrasound showed the head structure abnormal of fetus. The routine test indicates that the fetus is normal in early pregnancy. Karyotype analysis showed 46, XN, -17, der (17)t (15; 17) (q24.1; p13.3), chromosome microarray analysis (CMA) detected a duplication on chromosome 15 and a deletion on chromosome 17 of fetus. Furthermore, the results of chromosome karyotype analysis indicated that the maternal karyotype is normal and the paternal karyotype is a balanced translocation of 46, XY, t (15; 17) (q24; p13), which inherited to the fetus. The pregnant woman decided to terminate the pregnancy after counseling. Conclusions: CMA is useful in prenatal to diagnose of fetal chromosomal abnormalities in pregnancy with ultrasound showed fetal abnormal structure, CMA can’t detect balanced translocations, but can be found by karyotyping. The two methods are complement each other. In addition, for patients with balanced translocations, preimplantation genetic diagnosis may be an option, it not only relieves the pain of spontaneous abortion for patients but also avoids the birth of defective fetal.
VL  - 12
IS  - 3
ER  -

Copy | Download