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Title: Perinatal diagnosis of a fetus with an unbalanced translocation 46,XY,der(10)t(6;10)(p22;q26.1) with multiple malformations: a case report and literature review
Authors: Ishibashi, Makiho
Watanabe, Takafumi
Kyozuka, Hyo
Yamaguchi, Akiko
Sato, Kenichi
Sato, Maki
Go, Hayato
Fujimori, Keiya
Affiliation: 産科婦人科学講座
Source title: Fukushima Journal of Medical Science
Volume: 67
Issue: 2
Start page: 83
End page: 88
Issue Date: 2021
Abstract: The phenotype of an unbalanced translocation is characterized by the dosage effects of the affected genes in the translocated chromosome. We present the case of a fetus with a paternally derived unbalanced 46,XY,der(10)t(6;10)(p22;q26.1) translocation, detected following growth retardation and cardiac malformation. In trisomy 6p and 10q26 monosomy, external surface malformations, including characteristic facial abnormalities, and neurological or higher effects have been reported. Developmental delay and hypotonia are reported in ≤ 80% of cases of 10q monosomy. Herein, low birth weight, cephalic abnormalities including microcephaly, low-set ears and a high arched palate, ambiguous genitalia including scrotal hypoplasia and cryptorchidism, and congenital heart defects, including ventricular septal defect and pulmonary atresia, were observed. Neurological impact was not evaluated due to neonatal death. The mortality rate and frequency of low birth weight in such translocations has been seldom reported. In this case, severe cardiac malformation and low birth weight may have caused early neonatal death. Whilst Trisomy 6 is associated with low birth weight and perinatal death, few studies have reported these outcomes in 10q26 deletion syndrome. Our findings therefore contribute to the evidence base regarding unbalanced translocations and may improve the clinical management of such patients.
Publisher: The Fukushima Society of Medical Science
Publisher (Alternative foam): 福島医学会
language: eng
URI: http://ir.fmu.ac.jp/dspace/handle/123456789/1588
Full text URL: http://ir.fmu.ac.jp/dspace/bitstream/123456789/1588/1/FksmJMedSci_67_p83.pdf
ISSN: 0016-2590
DOI: 10.5387/fms.2020-28
PubMed ID: 33994433
Related Page: https://doi.org/10.5387/fms.2020-28
Rights: © 2021 The Fukushima Society of Medical Science. This article is licensed under a Creative Commons [Attribution-NonCommercial-ShareAlike 4.0 International] license.
Rights: https://creativecommons.org/licenses/by-nc-sa/4.0/
Appears in Collections:Vol.67 (2021)

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FksmJMedSci_67_p83.pdf353.08 kBAdobe PDFDownload

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