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Tytuł:
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Prenatal diagnosis and molecular cytogenetic characterization of a de novo interchromosomal insertion of ins(1;8)(p22.1;q22q23).
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Autorzy:
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Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_.
Wu CY; Department of Obstetrics and Gynecology, Tatung MacKay Memorial Hospital, Tatung, Taiwan.
Chern SR; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Wu PS; Gene Biodesign Co. Ltd., Taipei, Taiwan.
Chen SW; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Chen YY; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Chen WL; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
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Źródło:
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Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2020 May; Vol. 59 (3), pp. 437-439.
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Typ publikacji:
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Case Reports
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Język:
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English
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Imprint Name(s):
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Publication: 2007- : Taipei, Taiwan : Elsevier
Original Publication: Hong Kong : Elsevier (Singapore)
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MeSH Terms:
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Comparative Genomic Hybridization*
Genetic Counseling*
In Situ Hybridization, Fluorescence*
Chromosome Disorders/*diagnosis
Prenatal Diagnosis/*methods
Adult ; Amniocentesis ; Chromosome Disorders/embryology ; Chromosome Duplication ; Chromosomes, Human, Pair 1 ; Chromosomes, Human, Pair 8 ; Cytogenetic Analysis ; Female ; Humans ; Infant, Newborn ; Karyotype ; Live Birth ; Male ; Monosomy/diagnosis ; Pregnancy
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Contributed Indexing:
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Keywords: Amniocentesis; FISH; Insertion
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SCR Disease Name:
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Chromosome 8 deletion
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Entry Date(s):
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Date Created: 20200518 Date Completed: 20210301 Latest Revision: 20210301
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Update Code:
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20240105
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DOI:
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10.1016/j.tjog.2020.03.018
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PMID:
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32416894
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Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a de novo interchromosomal insertion of ins(1; 8)(p22.1; q22q23) at amniocentesis.
Case Report: A 34-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Conventional cytogenetic analysis revealed a chromosome 1p22.1 interstitial duplication and a chromosome 8q22-q23 interstitial deletion. The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) analysis using the DNA extracted from cultured amniocytes revealed no genomic imbalance. Metaphase fluorescence in situ hybridization (FISH) analysis on cultured amniocytes showed an interchromosomal insertion of ins(1; 8)(p22.1; q22q23) or ins(1; 8) (1pter→1p22.1::8q23→8q22::1p22.1→1qter; 8pter→8q22::8q23→8qter). The long arm of chromosome 8 between bands 8q22 and 8q23 had been directly inserted into the short arm of chromosome 1 at band 1p22.1. The karyotype was 46,XY,ins(1; 8)(p22.1; q22q23) or 46,XY,ins(1; 8)(1pter→1p22.1::8q23→8q22::1p22.1→1qter; 8pter→8q22::8q23→8qter). After genetic counseling, the parents decided to continue the pregnancy. A phenotypically normal male baby was delivered at term.
Conclusion: FISH and aCGH are useful for genetic counseling and molecular cytogenetic characterization of a de novo interchromosomal insertion detected by amniocentesis.
Competing Interests: Declaration of Competing Interest The authors have no conflicts of interest relevant to this article.
(Copyright © 2020. Published by Elsevier B.V.)
