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Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities.

Authors
  • Yamamoto-Shimojima, Keiko1
  • Kouwaki, Masanori2
  • Kawashima, Yuki3
  • Itomi, Kazuya4
  • Momosaki, Ken5
  • Ozasa, Shiro5
  • Okamoto, Nobuhiko6
  • Yokochi, Kenji7
  • Yamamoto, Toshiyuki1
  • 1 Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. , (Japan)
  • 2 Department of Neonatology, Toyohashi Municipal Hospital, Toyohashi, Japan. , (Japan)
  • 3 Department of Pediatrics, Tottori University, Yonago, Japan. , (Japan)
  • 4 Department of Neurology, Aichi Children's Health and Medical Center, Obu, Japan. , (Japan)
  • 5 Department of Pediatrics, Kumamoto University, Kumamoto, Japan. , (Japan)
  • 6 Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan. , (Japan)
  • 7 Department of Pediatrics, Seirei Mikatahara General Hospital, Hamamatsu, Japan. , (Japan)
Type
Published Article
Journal
Congenital anomalies
Publication Date
Sep 01, 2019
Volume
59
Issue
5
Pages
169–173
Identifiers
DOI: 10.1111/cga.12318
PMID: 30378700
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Wolf-Hirschhorn syndrome (WHS) is a subtelomeric deletion syndrome affecting the short arm of chromosome 4. The main clinical features are a typical craniofacial appearance, growth deficiency, developmental delays, and seizures. Previous genotype-phenotype correlation analyses showed some candidate regions for each clinical finding. The WHS critical region has been narrowed into the region 2 Mb from the telomere, which includes LETM1 and WHSC1; however, this region is insufficient to cause "typical WHS facial appearance". In this study, we identified 10 patients with a deletion involving 4p16.3. Five patients showed pure terminal deletions and three showed unbalanced translocations. The remaining patients showed an interstitial deletion and a suspected inverted-duplication-deletion. Among 10 patients, one patient did not show "typical WHS facial appearance" although his interstitial deletion included LETM1 and WHSC1. On the other hand, another patient exhibited "typical WHS facial appearance" although her small deletion did not include LETM1 and WHSC1. Instead, FGFRL1 was considered as the candidate for this finding. The largest deletion of 34.7 Mb was identified in a patient with the most severe phenotype of WHS. © 2018 Japanese Teratology Society.

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