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Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion.
Okazaki, Tetsuya; Kawaguchi, Tatsuya; Saiki, Yusuke; Aoki, Chisako; Kasagi, Noriko; Adachi, Kaori; Saida, Ken; Matsumoto, Naomichi; Nanba, Eiji; Maegaki, Yoshihiro.
Affiliation
  • Okazaki T; Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan. t-okazaki@tottori-u.ac.jp.
  • Kawaguchi T; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.
  • Saiki Y; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.
  • Aoki C; Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan.
  • Kasagi N; Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan.
  • Adachi K; Department of Fundamental Nursing, School of Health Science, Tottori University Faculty of Medicine, Yonago, Japan.
  • Saida K; Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan.
  • Matsumoto N; Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University, Yonago, Japan.
  • Nanba E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Maegaki Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Hum Genome Var ; 9(1): 14, 2022 May 17.
Article in En | MEDLINE | ID: mdl-35581197
ABSTRACT
There is only one report of patients with developmental delay due to a 6q16.1 deletion that does not contain the SIM1 gene. A 3-year-old female showed strabismus, cleft soft palate, hypotonia at birth, and global developmental delay. Exome sequencing detected a de novo 6q16.1 deletion (chr6 99282717-100062596) (hg19). The following genes were included in this region POU3F2, FBXL4, FAXC, COQ3, PNISR, USP45, TSTD3, CCNC, and PRDM13.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Hum Genome Var Year: 2022 Document type: Article Affiliation country:
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Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Hum Genome Var Year: 2022 Document type: Article Affiliation country: