Prenatal diagnosis of a de novo 10p12.1p11.23 microdeletion encompassing the WAC gene in a fetus associated with bilateral hydronephrosis and right clubfoot on prenatal ultrasound.

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  • Additional Information
    • Source:
      Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN: 1875-6263 (Electronic) Linking ISSN: 10284559 NLM ISO Abbreviation: Taiwan J Obstet Gynecol Subsets: MEDLINE
    • Publication Information:
      Publication: 2007- : Taipei, Taiwan : Elsevier
      Original Publication: Hong Kong : Elsevier (Singapore)
    • Subject Terms:
      Clubfoot*/genetics ; Clubfoot*/diagnostic imaging ; Ultrasonography, Prenatal* ; Chromosome Deletion* ; Amniocentesis* ; Hydronephrosis*/genetics ; Hydronephrosis*/diagnostic imaging ; Chromosomes, Human, Pair 10*/genetics; Humans ; Female ; Pregnancy ; Adult ; Abortion, Induced
    • Abstract:
      Objective: We present prenatal diagnosis of de novo 10p12.1p11.23 microdeletion encompassing the WAC gene in a fetus associated with bilateral hydronephrosis on prenatal ultrasound.
      Case Report: A 40-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY. Level II ultrasound at 22 weeks of gestation revealed bilateral hydronephrosis and right clubfoot. At 23 weeks of gestation, repeat amniocentesis revealed the result of arr [GRCh37] 10p12.1p11.23 (26,182,512-29,826,276) × 1 dn with a 3.6-Mb microdeletion of 10p12.1p11.23 encompassing the genes of MYO3A, GAD2, APBB1IP, PDSS1, ABI1, ANKRD26, YME1L1, MASTL, ACBD5, PTCHD3, RAB18, MKX, ODAD2, MPP7, WAC and BAMBI. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism of low-set ears, broad forehead and flat nasal bridge. Array comparative genomic hybridization (aCGH) analysis of umbilical cord confirmed a 3.6-Mb 10p12.1p11.23 microdeletion encompassing WAC.
      Conclusion: Application of aCGH is useful in the pregnancy with a normal fetal karyotype and abnormal fetal ultrasound.
      Competing Interests: Declaration of competing interest The authors have no conflicts of interest relevant to this article.
      (Copyright © 2024. Published by Elsevier B.V.)
    • Contributed Indexing:
      Keywords: 10p12-p11 deletion syndrome; Clubfoot; DeSanto-Shinawi syndrome; Hydronephrosis; WAC
    • Publication Date:
      Date Created: 20240714 Date Completed: 20240714 Latest Revision: 20240812
    • Publication Date:
      20240813
    • Accession Number:
      10.1016/j.tjog.2024.05.008
    • Accession Number:
      39004484